ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1237T>C (p.Leu413=) (rs574008372)

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Total submissions: 5
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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) RCV000495339 SCV000578373 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 RCV000167277 SCV000218120 likely benign Hereditary cancer-predisposing syndrome 2014-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000429782 SCV000526251 likely benign not specified 2017-07-28 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.
Invitae RCV000540388 SCV000635784 likely benign Hereditary breast and ovarian cancer syndrome 2017-10-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000429782 SCV000698837 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing

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