ClinVar Miner

Variants in gene BLM

See also:
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 drug response not provided total
467 326 3022 1804 145 3 64 5264

Condition and significance breakdown #

Total conditions: 28
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Bloom syndrome 426 301 2224 1353 90 0 8 4130
Hereditary cancer-predisposing syndrome 137 40 1868 949 18 0 0 2977
not provided 31 26 345 138 61 0 1 561
not specified 0 0 106 51 38 0 29 190
BLM-related disorder 8 3 23 35 4 0 0 73
Hereditary breast ovarian cancer syndrome 0 3 15 0 0 0 0 18
Hereditary cancer 0 0 4 8 0 0 0 12
Ovarian cancer 0 3 0 0 8 0 0 11
Colorectal cancer 3 1 5 0 0 0 1 10
Familial cancer of breast 0 0 0 0 0 0 5 5
Melanoma 0 0 0 0 0 0 5 5
Uterine corpus endometrial carcinoma 0 0 0 0 0 0 5 5
Cervical cancer 0 0 0 0 0 0 3 3
Lung cancer 0 0 0 0 0 0 3 3
Microcephaly 0 0 3 0 0 0 0 3
Olaparib response 0 0 0 0 0 3 0 3
Thymoma 0 0 0 0 0 0 3 3
Colon adenocarcinoma 0 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 0 1 1
Familial cancer of breast; Endometrial carcinoma; Colorectal cancer 1 0 0 0 0 0 0 1
Gastric cancer 0 0 0 0 0 0 1 1
Hereditary disease 0 0 0 0 1 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 0 1 1
Ovarian serous cystadenocarcinoma 0 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 103
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign drug response not provided total
Labcorp Genetics (formerly Invitae), Labcorp 390 74 2047 1311 76 0 0 3898
Ambry Genetics 133 37 1836 936 12 0 0 2954
Natera, Inc. 37 81 582 101 24 0 0 825
GeneDx 25 15 191 43 67 0 0 341
Quest Diagnostics Nichols Institute San Juan Capistrano 9 5 185 41 21 0 0 261
Baylor Genetics 43 95 18 0 0 0 0 156
Fulgent Genetics, Fulgent Genetics 18 39 83 5 0 0 0 145
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 32 14 59 26 13 0 0 144
Sema4, Sema4 4 3 65 49 5 0 0 126
Counsyl 5 81 35 4 0 0 0 125
Mendelics 11 4 51 31 5 0 0 102
Genetic Services Laboratory, University of Chicago 2 2 47 34 5 0 0 90
PreventionGenetics, part of Exact Sciences 8 3 23 38 13 0 0 85
CeGaT Center for Human Genetics Tuebingen 7 2 9 61 0 0 0 79
Illumina Laboratory Services, Illumina 4 0 45 10 15 0 0 74
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 6 2 49 0 0 0 0 57
Myriad Genetics, Inc. 33 7 0 2 3 0 0 45
Eurofins Ntd Llc (ga) 5 0 23 6 10 0 0 44
Breakthrough Genomics, Breakthrough Genomics 0 0 4 11 25 0 0 40
Revvity Omics, Revvity 15 6 16 0 0 0 0 37
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 4 13 12 0 0 31
GeneKor MSA 5 0 14 3 8 0 0 30
ITMI 0 0 0 0 0 0 29 29
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 0 28 28
Genome-Nilou Lab 0 1 11 3 12 0 0 27
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 25 0 0 27
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 2 1 21 1 1 0 0 26
Mayo Clinic Laboratories, Mayo Clinic 1 1 3 5 11 0 0 21
Cancer Genomics Group, Japanese Foundation For Cancer Research 0 3 15 0 0 0 0 18
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 3 1 1 10 2 0 0 17
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 3 0 0 8 0 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 9 0 0 0 0 10
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 4 4 0 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 6 1 0 0 8
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 4 0 1 1 2 0 0 8
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 8 0 0 0 8
Dasa 5 0 0 2 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 0 0 0 4 0 0 7
3billion 5 1 0 0 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 6 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 1 1 1 0 0 0 6
Pathway Genomics 3 0 1 2 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 3 1 1 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 3 0 0 0 0 5
Otogenetics 2 3 0 0 0 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 2 1 1 0 0 0 0 4
OMIM 4 0 0 0 0 0 0 4
AiLife Diagnostics, AiLife Diagnostics 0 2 1 0 0 0 0 3
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 3 0 0 0 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 1 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 2 1 0 0 0 0 0 3
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 3 0 0 0 0 3
Department of Thoracic Surgery and State Key Laboratory of Genetic Engineering, Fudan University Shanghai Cancer Center 0 0 0 0 0 3 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 2 0 0 1 0 0 0 3
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 0 2 0 1 0 0 3
Pars Genome Lab 0 0 2 1 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 2 0 0 0 0 2
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 1 0 0 0 0 2
Center for Medical Genetics Ghent, University of Ghent 2 0 0 0 0 0 0 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 1 1 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 0 2
GeneReviews 0 0 0 0 0 0 2 2
Genomic Center, National Cancer Institute 2 0 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 2
Helix 0 0 2 0 0 0 0 2
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 2 0 0 0 0 0 0 2
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 0 0 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 0 2
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 1 0 0 0 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 0 1
Center for Individualized Medicine, Mayo Clinic 0 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 1
Department of Genomics, ADN Uruguay 0 1 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 0 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 0 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 0 1
Greehey Children's Cancer Research Institute, UT Health San Antonio 1 0 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 0 1
Laboratorio de I+D, Fundación Centro Médico de Asturias 1 0 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1
Medical Genetics, Medical University Pleven 1 0 0 0 0 0 0 1
New York Genome Center 1 0 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 0 1
Royal Medical Services, Bahrain Defence Force Hospital 0 0 1 0 0 0 0 1
SNPedia 0 0 0 0 0 0 1 1
Variantyx, Inc. 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.