ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.891G>A (p.Met297Ile) (rs80357103)

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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) RCV000111502 SCV000244414 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 = 0.0000634
Invitae RCV000225769 SCV000077191 benign Hereditary breast and ovarian cancer syndrome 2015-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000049178 SCV000209917 likely benign not specified 2016-04-08 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 RCV000162970 SCV000213458 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Counsyl RCV000111502 SCV000220510 likely benign Breast-ovarian cancer, familial 1 2014-07-15 criteria provided, single submitter literature only
Breast Cancer Information Core (BIC) (BRCA1) RCV000111502 SCV000143944 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing

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