ClinVar Miner

Variants studied for Cowden disease

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
1052 377 1826 1748 419 18 4964

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTEN 824 311 866 582 311 15 2476
PIK3CA 31 6 276 307 21 0 637
SDHD 85 14 288 169 7 0 562
AKT1 3 0 204 267 29 0 496
SEC23B 52 29 74 320 31 0 494
LOC126861339, SDHD 19 1 52 40 2 0 113
LOC126862987, SEC23B 13 3 7 47 7 0 76
KLLN, PTEN 8 4 21 3 4 0 35
SDHB 0 0 9 3 1 1 14
LOC130004273, MLDHR, PTEN 1 4 8 3 0 1 12
KLLN, LOC130004273, PTEN 0 1 1 4 4 0 8
LOC130004273, PTEN 0 3 4 2 1 0 5
ALG9, BTG4, C11orf52, CFAP68, CRYAB, DIXDC1, DLAT, FDXACB1, HOATZ, HSPB2, LAYN, MIR34B, MIR34BHG, MIR34C, NKAPD1, PIH1D2, POU2AF1, POU2AF3, PPP2R1B, SDHD, SIK2, TIMM8B 3 0 1 0 0 0 4
LOC130004274, PTEN 0 0 2 0 0 1 3
ADIRF, AGAP11, ATAD1, BMPR1A, FAM25A, GLUD1, KLLN, MINPP1, MMRN2, NUTM2A, PAPSS2, PTEN, SHLD2, SNCG 2 0 0 0 0 0 2
KLLN 1 0 1 0 0 0 2
KLLN, LOC130004271 0 0 2 0 0 0 2
KLLN, LOC130004273, LOC130004274, MLDHR, PTEN 1 0 1 0 0 0 2
KLLN, LOC130004273, MLDHR, PTEN 0 0 1 0 1 0 2
LOC129929542, SDHB 0 0 2 0 0 0 2
SDHC 0 0 1 1 0 0 2
ACTA2, ANKRD22, KLLN, LIPF, LIPJ, LIPK, LIPM, LIPN, PTEN, RNLS, STAMBPL1 1 0 0 0 0 0 1
ADIRF, AGAP11, ATAD1, BMPR1A, FAM245A, FAM25A, GLUD1, KLLN, LINC00863, LOC111982877, LOC111982878, LOC116216117, LOC121366070, LOC121366071, LOC124416862, LOC124416863, LOC126860989, LOC126860990, LOC126860991, LOC129390212, LOC129390213, LOC130004248, LOC130004249, LOC130004250, LOC130004251, LOC130004252, LOC130004253, LOC130004254, LOC130004255, LOC130004256, LOC130004257, LOC130004258, LOC130004259, LOC130004260, LOC130004261, LOC130004262, LOC130004263, LOC130004264, LOC130004265, LOC130004266, LOC130004267, LOC130004268, LOC130004269, LOC130004270, LOC130004271, LOC130004272, LOC130004273, LOC130004274, MINPP1, MIR4678, MLDHR, MMRN2, NUTM2A, NUTM2D, PAPSS2, PTEN, SHLD2, SNCG 1 0 0 0 0 0 1
ADIRF, AGAP11, ATAD1, BMPR1A, FAM25A, GLUD1, KLLN, LDB3, MINPP1, MMRN2, NUTM2A, PAPSS2, PTEN, SHLD2, SNCG 1 0 0 0 0 0 1
AKT1, ZBTB42 0 0 1 0 0 0 1
ATAD1, KLLN, LIPF, LIPJ, LIPK, LIPN, MINPP1, PAPSS2, PTEN, RNLS 1 0 0 0 0 0 1
ATAD1, KLLN, LIPF, LIPJ, LIPK, LIPN, PTEN, RNLS 1 0 0 0 0 0 1
BANF2, DZANK1, KAT14, MGME1, OVOL2, PET117, POLR3F, RBBP9, RRBP1, SEC23B, SNX5, ZNF133 1 0 0 0 0 0 1
COL18A1, SLC19A1 1 0 0 0 0 0 1
EGFR 1 0 0 0 0 0 1
GNB4, KCNMB3, MFN1, PIK3CA, ZNF639 0 0 1 0 0 0 1
KLLN, LOC130004270 0 0 1 0 0 0 1
LDLR 0 1 0 0 0 0 1
LOC130004275, PTEN 1 0 0 0 0 0 1
POLR3F, RBBP9, SEC23B 0 0 1 0 0 0 1
SDHD, TIMM8B 1 0 0 0 0 0 1
USF3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 117
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 754 114 1594 1633 117 0 4212
Myriad Genetics, Inc. 309 119 12 120 262 0 822
Clingen PTEN Variant Curation Expert Panel, Clingen 70 52 56 35 11 0 224
All of Us Research Program, National Institutes of Health 10 1 90 66 0 0 167
Fulgent Genetics, Fulgent Genetics 23 17 63 7 1 0 111
Illumina Laboratory Services, Illumina 1 0 59 5 22 0 87
Department of Pathology and Laboratory Medicine, Sinai Health System 6 20 23 24 8 0 81
Mendelics 7 8 27 21 14 0 77
Counsyl 3 3 24 23 1 0 54
OMIM 39 0 5 0 0 0 44
KCCC/NGS Laboratory, Kuwait Cancer Control Center 3 2 0 9 27 0 41
Cancer Genomic Medicine Translational Research Lab, Cleveland Clinic Genomic Medicine Institute 24 0 10 0 0 0 34
Herman Laboratory, Nationwide Children's Hospital 33 0 0 0 0 0 33
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 21 5 3 0 0 0 29
3billion 10 8 7 0 0 0 25
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 16 9 0 0 0 0 25
Institute of Human Genetics, University of Leipzig Medical Center 11 5 1 0 0 0 17
Baylor Genetics 7 1 8 0 0 0 16
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 9 5 0 0 0 0 14
Molecular Pathology, Peter Maccallum Cancer Centre 6 4 3 0 0 0 13
MGZ Medical Genetics Center 7 3 1 0 0 0 11
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 4 3 3 0 0 0 10
GenomeConnect - Brain Gene Registry 0 0 0 0 0 10 10
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 2 2 0 1 0 10
Juno Genomics, Hangzhou Juno Genomics, Inc 6 4 0 0 0 0 10
CENTOGENE GmbH and LLC - Guiding Precision Medicine 5 4 0 0 0 0 9
Clinical Genomics Laboratory, Washington University in St. Louis 4 0 5 0 0 0 9
University of Washington Department of Laboratory Medicine, University of Washington 3 4 0 2 0 0 9
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 2 3 0 0 0 8
Genome-Nilou Lab 0 0 0 0 7 0 7
Neuberg Centre For Genomic Medicine, NCGM 3 1 3 0 0 0 7
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 4 2 0 0 0 6
Center for Human Genetics, Inc, Center for Human Genetics, Inc 2 3 1 0 0 0 6
Clinical Genetics Laboratory, Skane University Hospital Lund 4 2 0 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 4 0 0 0 6
Pathway Genomics 4 1 1 0 0 0 6
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 4 0 1 0 0 0 5
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 4 0 0 0 5
Variantyx, Inc. 4 1 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 2 0 4
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO) 0 0 4 0 0 0 4
Genesis Genomics 0 4 0 0 0 0 4
Institute of Human Genetics Munich, TUM University Hospital 2 2 0 0 0 0 4
Medical and Scientific Branch, Hong Kong Genome Institute 2 2 0 0 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 2 0 0 0 0 4
Revvity Omics, Revvity 0 0 4 0 0 0 4
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 1 0 1 0 0 3
Dasa 3 0 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 2 1 0 0 0 0 3
GeneReviews 0 0 0 0 0 3 3
Genetics and Molecular Pathology, SA Pathology 1 0 2 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 0 0 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 3 0 0 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 1 0 0 0 0 3
Medical Molecular Genetics, University of Birmingham 3 0 0 0 0 0 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 0 0 0 0 0 3
Yale Center for Mendelian Genomics, Yale University 3 0 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 1 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 0 2
Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Children’s Hospital 0 2 0 0 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 1 0 0 0 0 2
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 2 0 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 0 1 0 0 0 2
University Health Network, Princess Margaret Cancer Centre 2 0 0 0 0 0 2
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 1
AlTemaimi Lab, Faculty of Medicine, Kuwait University 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Department of Human Genetics, SALK University Hospital, Paracelsus Medical University Salzburg 0 1 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 0 0 0 1
Division of Medical Genetics, University of Washington 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
King Laboratory, University of Washington 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 1 0 0 0 1
Medgenome Labs Pvt Ltd 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 0 1
Navigene Genetic Science Pvt Ltd 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 0 1

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