ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.444+1G>A

gnomAD frequency: 0.00009  dbSNP: rs121908698
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Total submissions: 58
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NHS Central & South Genomic Laboratory Hub RCV004772840 SCV006083309 pathogenic Inherited breast cancer and ovarian cancer 2025-06-05 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV005246647 SCV005900125 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2025-03-04 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000116017 SCV005689637 pathogenic Hereditary cancer-predisposing syndrome 2025-02-04 criteria provided, single submitter clinical testing PVS1; PS4
Fulgent Genetics, Fulgent Genetics RCV005031611 SCV005663138 pathogenic CHEK2-related cancer predisposition; Bone osteosarcoma; Familial prostate cancer 2024-05-14 criteria provided, single submitter clinical testing
Genomics and Molecular Medicine Service, East Genomic Laboratory Hub, NHS Genomic Medicine Service RCV004772840 SCV005382632 likely pathogenic Inherited breast cancer and ovarian cancer 2024-10-29 criteria provided, single submitter clinical testing PVS1,PM5_Supporting
Clinical Genetics Laboratory, Skane University Hospital Lund RCV000212418 SCV005197505 pathogenic not provided 2023-10-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000212418 SCV004564994 pathogenic not provided 2023-11-22 criteria provided, single submitter clinical testing The CHEK2 c.444+1G>A variant (rs121908698), also known as IVS2+1G>A, is reported in numerous individuals with familial breast cancer and prostate cancer, and is considered to be one of three CHEK2 founder variants in the Polish population (Bak 2014, Cybulski 2004, Cybulski 2006, Dong 2003). Functional analysis showed that this variant results in a 4-bp insertion due to abnormal splicing and creates a premature termination codon eliminating part of the FHA domain and the entire kinase activation domain of CHEK2 (Dong 2003). This variant is reported in ClinVar (Variation ID: 128075). It is observed in the general population with an overall allele frequency of 0.01% (40/282678 alleles) in the Genome Aggregation Database. Based on available information, this variant is considered to be pathogenic. References: Bak A et al. A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland. Hered Cancer Clin Pract. 2014 Apr 8;12(1):10. PMID: 24713400. Cybulski C et al. A novel founder CHEK2 mutation is associated with increased prostate cancer risk. Cancer Res. 2004 Apr 15;64(8):2677-9. PMID: 15087378. Cybulski C et al. CHEK2-positive breast cancers in young Polish women. Clin Cancer Res. 2006 Aug 15;12(16):4832-5. PMID: 16914568. Dong X et al. Mutations in CHEK2 associated with prostate cancer risk. Am J Hum Genet. 2003 Feb;72(2):270-80. PMID: 12533788.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001270936 SCV004240453 pathogenic Breast and/or ovarian cancer 2023-06-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000212418 SCV004225016 pathogenic not provided 2023-05-10 criteria provided, single submitter clinical testing PS4_moderate, PVS1
Baylor Genetics RCV000196718 SCV004217503 pathogenic Familial cancer of breast 2024-03-27 criteria provided, single submitter clinical testing
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001705823 SCV004046200 pathogenic CHEK2-related cancer predisposition criteria provided, single submitter clinical testing This variant is also referred to as IVS2+1G>A in the literature. The c.573+1G>A variant affects the canonical splice donor site of intron 4 and is therefore predicted to interfere with splicing and result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has been previously reported as a heterozygous change in patients with familial prostate cancer and breast cancer with odds ratios for familial prostate cancer of up to 12.1 and breast cancer of 3.0 (PMID: 12533788, 15492928, 21876083, 24713400, 25583358). This variant has also been associated with increased risk of other cancers including colon, thyroid and ovarian cancer and polycythemia vera (PMID: 15492928, 26084796, 26681312, 30322717). RNA analysis of cell lines derived from patient cells demonstrated that this variant results in reduced protein levels and use of another splice donor site, leading to frameshift and creation of a premature termination codon (PMID: 12533788). It is present in the heterozygous state in the gnomAD population database at a frequency of .014% (40/282678) and thus is presumed to be rare. Multiple splice prediction tools suggest this variant is likely to interfere with normal splicing. Based on the available evidence, the c.573+1G>A variant is classified as Pathogenic.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000212418 SCV004024661 pathogenic not provided 2025-03-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000196718 SCV004020198 pathogenic Familial cancer of breast 2023-03-09 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant is strongly associated with more severe personal and family histories of cancer, typical for individuals with pathogenic variants in this gene [PMID: 25085752].
Human Genetics Bochum, Ruhr University Bochum RCV002508922 SCV002818309 pathogenic Melanoma 2022-12-05 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1, PM2, PS4
Human Genetics Bochum, Ruhr University Bochum RCV002463642 SCV002758572 pathogenic Colorectal cancer 2022-08-17 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PVS1, PM2, PS4
MGZ Medical Genetics Center RCV000196718 SCV002579688 pathogenic Familial cancer of breast 2022-08-23 criteria provided, single submitter clinical testing
Laboratory Cellgenetics, GMDL Cellgenetics RCV000196718 SCV002578254 pathogenic Familial cancer of breast 2022-03-01 criteria provided, single submitter clinical testing The variant CHEK2:c.444+1G>A was classified as Pathogenic. The classification was assigned based on the following ACMG criteria: PVS1, PS3, PS4_moderate, PM2, PP5.
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV000196718 SCV002578144 pathogenic Familial cancer of breast 2022-09-27 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000196718 SCV002556670 pathogenic Familial cancer of breast 2020-04-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000116017 SCV002537436 pathogenic Hereditary cancer-predisposing syndrome 2021-11-30 criteria provided, single submitter curation
Revvity Omics, Revvity RCV000212418 SCV002019277 pathogenic not provided 2019-04-24 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000212418 SCV002009496 pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001705823 SCV001934406 pathogenic CHEK2-related cancer predisposition 2024-07-12 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4,PS1_SUP
Department of Molecular Diagnostics, Institute of Oncology Ljubljana RCV000196718 SCV001499789 pathogenic Familial cancer of breast 2020-04-02 criteria provided, single submitter clinical testing
Department of Pediatrics, Memorial Sloan Kettering Cancer Center RCV000196718 SCV001478115 pathogenic Familial cancer of breast 2020-12-15 criteria provided, single submitter research
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000212418 SCV001446511 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000196718 SCV001440944 pathogenic Familial cancer of breast 2019-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000196718 SCV001366166 pathogenic Familial cancer of breast 2022-12-09 criteria provided, single submitter research PVS1, PS3, PS4_STR, BS1
CeGaT Center for Human Genetics Tuebingen RCV000212418 SCV001245716 pathogenic not provided 2025-05-01 criteria provided, single submitter clinical testing CHEK2: PVS1, PS4, PM2:Supporting
Mendelics RCV000196718 SCV001141371 pathogenic Familial cancer of breast 2019-05-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000196718 SCV000917232 pathogenic Familial cancer of breast 2017-11-22 criteria provided, single submitter clinical testing Variant summary: The CHEK2 c.444+1G>A variant involves the alteration of a conserved intronic nucleotide that is the first nucleotide of the intron at an exon-intron junction. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict a loss of the canonical splice site, which is supported by functional studies that show the use of a cryptic splice site in patient cell lines that introduces 4bp, thus causing a frameshift. A concomitant reduction in CHEK2 protein was also detected in these patient cell lines, supporting the splicing data (Dong_2003). The variant has been identified in numerous patients with breast and prostate cancer (Kraus_2016, Maxwell_2016, Lhota_2016). The variant reportedly identified among BrC patients at a frequency of 1.3% and is considered to be one of the four founder mutations in Poland (Cybulski_2011). This variant was found in 39/278078 control chromosomes at a frequency of 0.0001402, which does not exceed the estimated maximal expected allele frequency of a pathogenic CHEK2 variant (0.0003125). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Illumina Laboratory Services, Illumina RCV001705823 SCV000915969 likely pathogenic CHEK2-related cancer predisposition 2018-09-21 criteria provided, single submitter clinical testing The CHEK2 c.444+1G>A variant, also reported as IVS2+1G>A, occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. This variant is well described in the literature in over 100 probands, and is associated particularly with familial prostate cancer and breast cancer (Dong et al. 2003, Cybulski et al. 2004a, Cybulski et al. 2004b, Cybulski et al. 2011, Bąk et al. 2014, Borun et al. 2015, Siołek et al. 2015) with odds ratios for familial prostate cancer of up to 12.1 (Cybulski et al. 2004b) and breast cancer of 3.0 (Bąk et al. 2014). The c.444+1G>A variant is reported at a frequency of 0.000465 in the European (non-Finnish) population of the Genome Aggregation Database. The c.444+1G>A variant has been shown to be one of three CHEK2 founder variants in the Polish population. Functional studies by Dong et al. (2003) demonstrated that the c.444+1G>A variant creates a premature stop codon, which removes part of the FHA domain of the protein and the entire kinase activation domain, and western blot analysis showed dramatic reduction of CHEK2 protein levels in cell lines from the proband. Based on the evidence, the c.444+1G>A variant is classified as likely pathogenic for CHEK2-related cancer susceptibility. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Fulgent Genetics, Fulgent Genetics RCV000763475 SCV000894257 pathogenic Familial cancer of breast; CHEK2-related cancer predisposition; Bone osteosarcoma; Prostate cancer 2018-10-31 criteria provided, single submitter clinical testing
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV000196718 SCV000839944 pathogenic Familial cancer of breast 2017-05-25 criteria provided, single submitter clinical testing This c.444+1G>A variant in the CHEK2 gene has been reported in patients with breast cancer [PMID 21876083, 27616075, 26822949, 24713400 referred as IVS2+1G>A]. This variant was also reported in a cohort of patients with thyroid cancer [PMID 25583358], prostate cancer [PMID 12533788] and multiple types of cancer [PMID 15492928]. This variant was also detected in one patient with breast cancer who was compound heterozygous for this c.444+1G>A variant and the p.I157T pathogenic variant [PMID 2471340]. This variant affects the invariant donor splice site of intron 3 of the CHEK2 gene. While not validated for clinical use, computer-based algorithms predict this c.444+1G>A change to disrupt this splicing site. This variant was detected in 14 heterozygous individuals within the ExAC database (http://exac.broadinstitute.org/variant/22-29121230-C-T). This variant is classified as pathogenic.
GeneKor MSA RCV000212418 SCV000821730 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing This variation occurs one base after exon 3 of the CHEK2 gene in a position highly conserved in the human and other genomes that is crucial for mRNA processing. This is expected to result in incorrect splicing and likely results in an absent or disrupted protein product. This variant has been reported in literature in individuals with increased risk for breast, prostate and other cancers (PMID:15492928, PMID: 19030985, PMID:12533788, PMID: 15492928). This variant is also known as IVS2+1G>A in the literature. The mutation database ClinVar contains entries for this variant (Variation ID: 128075). Algorithms developed to predict the effect of single base changes on mRNA splicing suggest that this variant may alter this cellular process. Moreover, experimental studies support the pathogenic effect of this variant through in mRNA splicing (PMID: 12533788).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212418 SCV000601168 pathogenic not provided 2021-04-02 criteria provided, single submitter clinical testing This variant disrupts a canonical splice-donor site and interferes with normal CHEK2 mRNA splicing. In the published literature, the variant has been reported in individuals and families with hereditary cancer (PMIDs: 28779002 (2017), 25583358 (2015), 24713400 (2014), 21876083 (2011), and 15492928 (2004)). The frequency of this variant in the general population, 0.00052 (13/25122 chromosomes, http://gnomad.broadinstitute.org), is consistent with pathogenicity. Based on the available information, this variant is classified as pathogenic.
Genetic Services Laboratory, University of Chicago RCV000501923 SCV000594120 pathogenic Breast cancer, susceptibility to 2016-09-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000116017 SCV000537642 pathogenic Hereditary cancer-predisposing syndrome 2025-01-13 criteria provided, single submitter clinical testing This variant causes a G to A nucleotide substitution at the +1 position of intron 3 of the CHEK2 gene. It is also known as CHEK2 IVS2+1G>A in the literature. RNA studies have shown that this variant abolishes the native splice donor site and activates a cryptic splice site, which leads to a frameshift and premature protein truncation (PMID: 12533788, 31843900). This variant has been reported in numerous individuals affected breast cancer (PMID: 15095295, 15492928, 21876083, 24713400, 33030641), ovarian cancer (PMID: 32546565), and prostate cancer (PMID: 12533788, 15087378). A large case-control study has shown that this variant is associated with an increased risk of breast cancer (OR=2.085, 95%CI [1.34 to 3.245], PMID: 33471991). The variant is thought to be a founder mutation in the Polish population (PMID: 15087378, 15492928). This variant has been identified in 40/282678 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of CHEK2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
University of Washington Department of Laboratory Medicine, University of Washington RCV000210090 SCV000266069 pathogenic Breast and colorectal cancer, susceptibility to 2015-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000196718 SCV000253902 pathogenic Familial cancer of breast 2025-01-26 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the CHEK2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or altered protein product. This variant is present in population databases (rs121908698, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. Disruption of this splice site has been observed in individual(s) with an increased risk (OR=2.3-3.5) for familial breast cancer or an increased risk (OR=2.5) for prostate cancer (PMID: 15492928, 19030985, 24713400; 21876083 12533788). This variant is also known as IVS2+1G>A. ClinVar contains an entry for this variant (Variation ID: 128075). Studies have shown that disruption of this splice site results in activation of a cryptic splice site, and produces a non-functional protein and/or introduces a premature termination codon (PMID: 12533788; internal data). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000116017 SCV000186195 pathogenic Hereditary cancer-predisposing syndrome 2024-07-31 criteria provided, single submitter clinical testing The c.444+1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide after coding exon 2 of the CHEK2 gene. This mutation has been described in multiple individuals diagnosed with breast cancer (Kraus C et al. Int. J. Cancer 2017 Jan;140(1):95-102; Pelttari LM et al. Clin. Genet. 2018 Mar;93(3):595-602). In addition, this mutation has been associated with increased risk of breast, prostate, thyroid, and stomach cancers as well as polycythemia vera in Polish patient cohorts (Cybulski C et al. Am. J. Hum. Genet. 2004 Dec;75:1131-5; Serrano-Fernandez P et al. Breast Cancer Res. Treat. 2009 Sep;117:161-5; Cybulski C et al. J. Clin. Oncol. 2011 Oct;29:3747-52; Teodorczyk U et al. Fam. Cancer. 2013 Sep;12:473-8; Janiszewska H et al. Br. J. Haematol. 2016 Apr;173(1):150-2). Of note, this alteration is also designated as IVS2+1G>A in published literature. RNA studies have demonstrated this alteration results in abnormal splicing in the set of samples tested (Ambry internal data; Dong X et al. Am. J. Hum. Genet. 2003 Feb;72:270-80). In silico splice site analysis predicts that this alteration will weaken the native splice donor site and will result in the creation or strengthening of a novel splice donor site. As such, this alteration is classified as a disease-causing mutation.
GeneDx RCV000212418 SCV000149926 pathogenic not provided 2020-06-24 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25980754, 25583358, 15095295, 27751358, 28918466, 30322717, 30927251, 31159747, 33077847, 32885271, 32338768, 33726816, 21876083, 25525159, 25915596, 26083025, 26250988, 25619955, 26084796, 15492928, 22058216, 19030985, 23296741, 26822949, 27153395, 26629066, 26929905, 26296701, 27038244, 24713400, 12533788, 16914568, 27616075, 27783279, 28727877, 28802053, 15810020, 27488870, 28680382, 28211887, 29356917, 29067458, 17085682, 29520813, 29902706, 29958926, 26681312, 30426508, 31447099, 34308366, 34570182)
PreventionGenetics, part of Exact Sciences RCV004737199 SCV005350749 pathogenic CHEK2-related disorder 2024-08-27 no assertion criteria provided clinical testing The CHEK2 c.444+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant (previously known as IVS2+1G>A) has been reported to be associated with predisposition to hereditary non-polyposis colorectal cancer (Yurgelun et al. 2015. PubMed ID: 25980754), an increased risk of breast and prostate cancer in Eastern European populations, and shows co-segregation with disease with a weakly penetrant effect (Dong et al. 2003. PubMed ID: 12533788; Cybulski et al. 2004. PubMed ID: 15492928; Cybulski et al. 2011. PubMed ID: 21876083; Lhota et al. 2016. PubMed ID: 26822949). It was also reported in patients with essential thrombocythemia diagnosed after age 57 (Janiszewska et al. 2012. PubMed ID: 22058216). This variant is reported in 0.052% of alleles in individuals of European (Finnish) descent in gnomAD. In ClinVar, the vast majority of labs consider this variant pathogenic or likely pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/128075/). Variants that disrupt the consensus splice donor site in CHEK2 are expected to be pathogenic. This variant is interpreted as pathogenic.
CZECANCA consortium RCV003128145 SCV003804360 pathogenic Endometrial carcinoma 2023-02-21 no assertion criteria provided clinical testing
BRCAlab, Lund University RCV000196718 SCV002588967 pathogenic Familial cancer of breast 2022-08-26 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000212418 SCV002035817 likely pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000212418 SCV001954716 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000212418 SCV001906267 pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000212418 SCV001809764 pathogenic not provided no assertion criteria provided clinical testing
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences RCV001554253 SCV001774858 pathogenic Breast carcinoma 2021-08-09 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001705823 SCV001749588 not provided CHEK2-related cancer predisposition no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 06-11-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000212418 SCV001740519 pathogenic not provided no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354639 SCV001549303 pathogenic Malignant tumor of breast no assertion criteria provided clinical testing The CHEK2 c.444+1G>A variant was identified in 179 of 121122 proband chromosomes (frequency: 0.002) from individuals or families with ascertained in studies of various cancers and was present in 23 of 11230 control chromosomes (frequency: 0.002) from healthy individuals (Bak 2014, Cybulski 2004, Cybulski 2011, Dong 2003, Havranek 2015, Janiszewska 2016, Leedom 2016, Sioek 2015, Yurgelun 2015). The variant was also identified in dbSNP (ID: rs121908698) as With Pathogenic allele, and ClinVar (classified as pathogenic by GeneDx, Ambry Genetics, Invitae, Color Genomics and two clinical laboratories; classified as likely benign by Counsyl). The variant was not identified in Zhejiang Colon Cancer Database. The variant was identified in control databases in 39 of 277022 chromosomes at a frequency of 0.0001 (Genome Aggregation Database Feb 27, 2017). The variant was identified in the following populations: Other in 3 of 6464 chromosomes (freq: 0.001), European Non-Finnish in 24 of 126516 chromosomes (freq: 0.0002), European Finnish in 12 of 25792 chromosomes (freq: 0.001), while the variant was not observed in the African, Latino, Ashkenazi Jewish, East Asian, and South Asian populations. The c.444+1G>A variant is predicted to cause abnormal splicing because the nucleotide substitution occurs in the invariant region of the splice consensus sequence. The c.444+1G>A variant was shown to results in a 4-bp insertion due to an abnormal splicing, using an alternative splice donor site in intron 2. This variant eliminates part of forkhead-homology associated domain and the entire kinase activation domain of CHEK2 (Dong 2003, Havranek 2015). In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf RCV000116017 SCV001482300 uncertain significance Hereditary cancer-predisposing syndrome flagged submission research
CZECANCA consortium RCV001270936 SCV001451740 pathogenic Breast and/or ovarian cancer 2019-06-11 no assertion criteria provided clinical testing
King Laboratory, University of Washington RCV001171461 SCV001251372 pathogenic Familial cancer of breast; CHEK2-related cancer predisposition 2019-09-01 no assertion criteria provided research
Counsyl RCV000196718 SCV000488172 likely pathogenic Familial cancer of breast 2016-01-24 no assertion criteria provided clinical testing This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.
OMIM RCV003333693 SCV000026133 pathogenic TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE 2006-11-01 no assertion criteria provided literature only

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