ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1418A>G (p.Asn473Ser) (rs80357057)

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Total submissions: 6
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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) RCV000111612 SCV000244301 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 = 0.00000337
Invitae RCV000047470 SCV000075483 likely benign Hereditary breast and ovarian cancer syndrome 2017-08-11 criteria provided, single submitter clinical testing
GeneDx RCV000435379 SCV000512286 likely benign not specified 2016-03-02 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.
Color RCV000584571 SCV000688337 likely benign Hereditary cancer-predisposing syndrome 2017-07-24 criteria provided, single submitter clinical testing
Counsyl RCV000111612 SCV000785609 benign Breast-ovarian cancer, familial 1 2017-10-12 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111612 SCV000144088 uncertain significance Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing

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