ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.231T>G (p.Thr77=) (rs114446594)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000176971 SCV000602827 benign not specified 2016-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129199 SCV000183943 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV000466597 SCV000541058 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Color RCV000129199 SCV000683478 benign Hereditary cancer-predisposing syndrome 2015-03-10 criteria provided, single submitter clinical testing
Counsyl RCV000119247 SCV000154083 likely benign Breast-ovarian cancer, familial 2 2014-03-14 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000176971 SCV000591665 benign not specified 2012-04-19 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000195302 SCV000296852 likely benign Hereditary breast and ovarian cancer syndrome 2015-11-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176971 SCV000228765 benign not specified 2014-12-29 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000119247 SCV000321190 benign Breast-ovarian cancer, familial 2 2016-09-28 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0113 (African), derived from 1000 genomes (2013-05-02).
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000195302 SCV000576432 likely benign Hereditary breast and ovarian cancer syndrome 2017-02-14 criteria provided, single submitter clinical testing
Invitae RCV000195302 SCV000071986 benign Hereditary breast and ovarian cancer syndrome 2017-12-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000176971 SCV000538469 likely benign not specified 2016-03-28 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: 5 B/LB; Silent (meets our criteria for LB)
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000656582 SCV000778633 likely benign not provided 2017-08-02 no assertion criteria provided clinical testing
Mendelics RCV000195302 SCV000838724 benign Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000119247 SCV000267726 benign Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000176971 SCV000805671 benign not specified 2016-12-08 criteria provided, single submitter clinical testing

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