ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) (rs1799966)

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Total submissions: 27
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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) RCV000112410 SCV000244369 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 = 0.00000000000309. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.3322 (Asian), 0.2195 (African), 0.3615 (European), derived from 1000 genomes (2012-04-30).
Invitae RCV000034753 SCV000076685 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Counsyl RCV000112410 SCV000154004 benign Breast-ovarian cancer, familial 1 2014-01-02 criteria provided, single submitter literature only High frequency in a 1kG or ESP population: 32.7 %.
Ambry Genetics RCV000128996 SCV000172891 benign Hereditary cancer-predisposing syndrome 2014-08-19 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000112410 SCV000195933 benign Breast-ovarian cancer, familial 1 2014-11-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120260 SCV000202262 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
Color RCV000128996 SCV000292079 benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120260 SCV000311797 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119096 SCV000403057 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000119096 SCV000494328 benign Hereditary breast and ovarian cancer syndrome 2013-10-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000120260 SCV000538430 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: Frequency
Baylor Genetics RCV000048672 SCV000540959 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000112410 SCV000575715 likely benign Breast-ovarian cancer, familial 1 2015-12-17 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000120260 SCV000586901 benign not specified 2017-04-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120260 SCV000591541 benign not specified 2015-12-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120260 SCV000602660 benign not specified 2018-07-01 criteria provided, single submitter clinical testing
GeneKor MSA RCV000120260 SCV000693617 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112410 SCV000743387 benign Breast-ovarian cancer, familial 1 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112410 SCV000744607 benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University,Faculty of Medicine Ramathibodi Hospital, Mahidol University RCV000767866 SCV000897720 benign Breast carcinoma 2019-04-03 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034753 SCV000043156 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000120260 SCV000084412 not provided not specified 2013-09-19 no assertion provided reference population
Breast Cancer Information Core (BIC) (BRCA1) RCV000112410 SCV000145193 not provided Breast-ovarian cancer, familial 1 no assertion provided clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000048672 SCV000148891 untested Familial cancer of breast no assertion provided not provided Converted during submission to not provided.
Sharing Clinical Reports Project (SCRP) RCV000112410 SCV000189345 benign Breast-ovarian cancer, familial 1 2011-03-22 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000112410 SCV000733604 benign Breast-ovarian cancer, familial 1 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000034753 SCV000778736 benign not provided 2016-11-28 no assertion criteria provided clinical testing

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