ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3302G>A (p.Ser1101Asn) (rs41293447)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131159 SCV000186102 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112053 SCV000144706 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000048135 SCV000219227 likely benign not specified 2017-01-18 criteria provided, single submitter clinical testing
Color RCV000131159 SCV000683097 benign Hereditary cancer-predisposing syndrome 2014-12-16 criteria provided, single submitter clinical testing
Counsyl RCV000112053 SCV000220332 likely benign Breast-ovarian cancer, familial 1 2014-05-20 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000048135 SCV000591435 benign not specified 2013-04-09 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112053 SCV000244338 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 = 0.00000000632
GeneDx RCV000048135 SCV000209951 benign not specified 2016-07-21 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.
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000131159 SCV000803149 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV000167784 SCV000076148 benign Hereditary breast and ovarian cancer syndrome 2018-01-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679691 SCV000806932 likely benign not provided 2017-07-06 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112053 SCV000297598 likely benign Breast-ovarian cancer, familial 1 2008-11-26 no assertion criteria provided clinical testing
Vantari Genetics RCV000131159 SCV000267006 likely benign Hereditary cancer-predisposing syndrome 2015-12-17 criteria provided, single submitter clinical testing

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