ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly) (rs2227945)

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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120277 SCV000602707 benign not specified 2016-04-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162594 SCV000213012 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034741 SCV000043167 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112092 SCV000144758 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Color RCV000162594 SCV000683103 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Counsyl RCV000112092 SCV000153996 likely benign Breast-ovarian cancer, familial 1 2014-01-02 criteria provided, single submitter literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112092 SCV000744635 benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Department of Medical Genetics,University Hospital of North Norway RCV000112092 SCV000301433 benign Breast-ovarian cancer, familial 1 2016-05-01 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120277 SCV000591444 benign not specified 2013-06-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120277 SCV000202267 benign not specified 2014-03-03 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112092 SCV000244340 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 = 0.00000592. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.04878 (African), derived from 1000 genomes (2012-04-30).
Fulgent Genetics,Fulgent Genetics RCV000112092 SCV000575714 likely benign Breast-ovarian cancer, familial 1 2015-12-11 criteria provided, single submitter clinical testing
ITMI RCV000120277 SCV000084429 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000048187 SCV000403060 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000048187 SCV000576441 likely benign Hereditary breast and ovarian cancer syndrome 2017-02-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000048187 SCV000494372 benign Hereditary breast and ovarian cancer syndrome 2013-10-15 criteria provided, single submitter clinical testing
Invitae RCV000048187 SCV000076200 benign Hereditary breast and ovarian cancer syndrome 2018-01-10 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034741 SCV000778747 benign not provided 2017-10-09 no assertion criteria provided clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000112092 SCV000195920 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120277 SCV000806933 benign not specified 2017-05-05 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000162594 SCV000787902 benign Hereditary cancer-predisposing syndrome 2018-01-03 no assertion criteria provided clinical testing

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