ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.591C>T (p.Cys197=) (rs1799965)

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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) RCV000112746 SCV000577992 benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.04; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0018 (Non-Finnish European), 0.0068 (Finnish), derived from ExAC (2014-12-17).
Invitae RCV000049065 SCV000077078 benign Hereditary breast and ovarian cancer syndrome 2018-01-12 criteria provided, single submitter clinical testing
Counsyl RCV000112746 SCV000154027 likely benign Breast-ovarian cancer, familial 1 2014-03-17 criteria provided, single submitter literature only
GeneDx RCV000168484 SCV000167232 benign not specified 2013-11-01 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 RCV000131013 SCV000185939 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000112746 SCV000195885 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000735462 SCV000219193 benign Breast and/or ovarian cancer 2017-06-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000168484 SCV000232716 benign not specified 2015-05-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000168484 SCV000246805 likely benign not specified 2015-07-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415785 SCV000493690 likely benign not provided 2016-07-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000168484 SCV000538440 likely benign not specified 2016-03-29 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: ExAC: 0.6% (45/6615) Finnish chromosomes; ClinVar: 7 labs classify as B/LB
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000168484 SCV000591288 benign not specified 2012-07-17 criteria provided, single submitter clinical testing
Color RCV000131013 SCV000683339 likely benign Hereditary cancer-predisposing syndrome 2015-02-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000415785 SCV000806979 likely benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Mendelics RCV000049065 SCV000839300 likely benign Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000415785 SCV000885077 benign not provided 2017-10-04 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112746 SCV000145632 not provided Breast-ovarian cancer, familial 1 no assertion provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112746 SCV000189349 benign Breast-ovarian cancer, familial 1 2011-03-15 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000168484 SCV000587065 benign not specified 2014-01-31 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000112746 SCV000733667 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000415785 SCV000778775 likely benign not provided 2017-05-31 no assertion criteria provided clinical testing
True Health Diagnostics RCV000131013 SCV000787912 likely benign Hereditary cancer-predisposing syndrome 2017-07-26 no assertion criteria provided clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735462 SCV000863599 benign Breast and/or ovarian cancer 2012-06-08 no assertion criteria provided clinical testing

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