ClinVar Miner

Submissions for variant NM_007300.4(BRCA1):c.3024G>A (p.Met1008Ile) (rs1800704)

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Total submissions: 19
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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) RCV000077535 SCV000244331 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 = 0.0000000196
Invitae RCV000048051 SCV000076064 benign Hereditary breast and ovarian cancer syndrome 2018-01-09 criteria provided, single submitter clinical testing
Counsyl RCV000077535 SCV000154015 benign Breast-ovarian cancer, familial 1 2014-01-24 criteria provided, single submitter literature only
Ambry Genetics RCV000162535 SCV000212936 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000120291 SCV000219225 likely benign not specified 2017-02-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000048051 SCV000267854 likely benign Hereditary breast and ovarian cancer syndrome 2016-04-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120291 SCV000333834 likely benign not specified 2015-08-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000120291 SCV000538436 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: 0.2% (25/11568) Latino; ClinVar: 5 B/LB, 3 VUS
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120291 SCV000586889 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120291 SCV000591420 benign not specified 2012-11-19 criteria provided, single submitter clinical testing
Color RCV000162535 SCV000683083 likely benign Hereditary cancer-predisposing syndrome 2015-02-11 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000077535 SCV000744641 benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120291 SCV000806927 benign not specified 2017-01-30 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034737 SCV000043171 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
ITMI RCV000120291 SCV000084443 not provided not specified 2013-09-19 no assertion provided reference population
Sharing Clinical Reports Project (SCRP) RCV000077535 SCV000109336 benign Breast-ovarian cancer, familial 1 2012-10-23 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077535 SCV000144613 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Pathway Genomics RCV000077535 SCV000187724 likely benign Breast-ovarian cancer, familial 1 2014-07-24 no assertion criteria provided literature only
True Health Diagnostics RCV000162535 SCV000886669 benign Hereditary cancer-predisposing syndrome 2018-09-28 no assertion criteria provided clinical testing

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