ClinVar Miner

Submissions for variant NM_007300.4(BRCA1):c.536A>G (p.Tyr179Cys) (rs56187033)

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Total submissions: 23
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031242 SCV000244401 benign Breast-ovarian cancer, familial 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000000000173
Invitae RCV000656646 SCV000076978 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Counsyl RCV000031242 SCV000154033 likely benign Breast-ovarian cancer, familial 1 2014-04-07 criteria provided, single submitter literature only
GeneDx RCV000168482 SCV000167228 benign not specified 2014-01-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000162619 SCV000213051 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000168482 SCV000219190 likely benign not specified 2016-06-17 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000031242 SCV000267684 benign Breast-ovarian cancer, familial 1 2016-04-21 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000167816 SCV000297228 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-09-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000168482 SCV000333419 likely benign not specified 2015-08-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000168482 SCV000538441 likely benign not specified 2016-06-23 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ClinVar: 6 B/LB, including expert panel
Fulgent Genetics,Fulgent Genetics RCV000031242 SCV000575709 likely benign Breast-ovarian cancer, familial 1 2015-09-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168482 SCV000591279 benign not specified 2013-05-22 criteria provided, single submitter clinical testing
Color RCV000162619 SCV000683307 likely benign Hereditary cancer-predisposing syndrome 2014-12-15 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000031242 SCV000746298 uncertain significance Breast-ovarian cancer, familial 1 2017-12-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000656646 SCV000806971 likely benign not provided 2017-05-16 criteria provided, single submitter clinical testing
Mendelics RCV000031242 SCV001140631 likely benign Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000656646 SCV001151339 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031242 SCV000053846 benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031242 SCV000145609 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000168482 SCV000587062 benign not specified 2014-01-31 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000031242 SCV000733670 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656646 SCV000778777 benign not provided 2017-08-01 no assertion criteria provided clinical testing
True Health Diagnostics RCV000162619 SCV000805235 likely benign Hereditary cancer-predisposing syndrome 2018-04-05 no assertion criteria provided clinical testing

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