ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.314A>G (p.Tyr105Cys) (rs28897673)

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Total submissions: 10
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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) RCV000112301 SCV000244336 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 = 0.000000105
Invitae RCV000048083 SCV000076096 benign Hereditary breast and ovarian cancer syndrome 2017-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000123881 SCV000167226 benign not specified 2013-11-05 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.
Ambry Genetics RCV000162964 SCV000213452 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Counsyl RCV000112301 SCV000220600 likely benign Breast-ovarian cancer, familial 1 2014-08-19 criteria provided, single submitter literature only
Michigan Medical Genetics Laboratories,University of Michigan RCV000112301 SCV000267679 benign Breast-ovarian cancer, familial 1 2016-04-21 criteria provided, single submitter clinical testing
Color RCV000162964 SCV000683088 likely benign Hereditary cancer-predisposing syndrome 2015-02-17 criteria provided, single submitter clinical testing
Mendelics RCV000048083 SCV000839307 likely benign Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112301 SCV000145035 benign Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148385 SCV000190083 likely benign Neoplasm of the breast 2014-06-01 no assertion criteria provided research

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