ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) (rs4987048)

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Total submissions: 24
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000424920 SCV000602746 benign not provided 2017-06-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131020 SCV000185947 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000462033 SCV000541052 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113464 SCV000146670 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000424920 SCV000511549 likely benign not provided 2016-06-23 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Color RCV000131020 SCV000683727 benign Hereditary cancer-predisposing syndrome 2015-03-10 criteria provided, single submitter clinical testing
Counsyl RCV000113464 SCV000220271 benign Breast-ovarian cancer, familial 2 2014-04-28 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113464 SCV000744475 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120340 SCV000591989 benign not specified 2013-08-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120340 SCV000202290 benign not specified 2015-05-22 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113464 SCV000245034 benign Breast-ovarian cancer, familial 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01626 (African), derived from 1000 genomes (2012-04-30).
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735573 SCV000863711 uncertain significance Breast and/or ovarian cancer 2002-12-04 no assertion criteria provided clinical testing
Fulgent Genetics,Fulgent Genetics RCV000113464 SCV000575756 likely benign Breast-ovarian cancer, familial 2 2016-01-29 criteria provided, single submitter clinical testing
GeneKor MSA RCV000120340 SCV000693638 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120340 SCV000593718 likely benign not specified 2017-02-28 criteria provided, single submitter clinical testing
ITMI RCV000120340 SCV000084492 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000167833 SCV000383723 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314320 SCV000383724 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000167833 SCV000494333 benign Hereditary breast and ovarian cancer syndrome 2014-02-11 criteria provided, single submitter clinical testing
Invitae RCV000167833 SCV000072736 benign Hereditary breast and ovarian cancer syndrome 2018-01-16 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000424920 SCV000778689 benign not provided 2017-07-24 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000113464 SCV000267785 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120340 SCV000805730 benign not specified 2016-10-03 criteria provided, single submitter clinical testing
Vantari Genetics RCV000131020 SCV000267018 likely benign Hereditary cancer-predisposing syndrome 2015-12-21 criteria provided, single submitter clinical testing

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