ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.231G>A (p.Thr77=) (rs80356847)

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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) RCV000409437 SCV000578110 likely benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Ambry Genetics RCV000131923 SCV000186978 uncertain significance Hereditary cancer-predisposing syndrome 2014-04-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Counsyl RCV000409437 SCV000488742 likely benign Breast-ovarian cancer, familial 1 2016-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000435787 SCV000530239 likely benign not specified 2016-07-19 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.
Integrated Genetics/Laboratory Corporation of America RCV000435787 SCV000698939 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Color RCV000131923 SCV000912056 likely benign Hereditary cancer-predisposing syndrome 2018-02-07 criteria provided, single submitter clinical testing

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