ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1830G>A (p.Arg610=) (rs587780796)

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Total submissions: 4
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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) RCV000495623 SCV000578388 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/).
Invitae RCV000123268 SCV000166575 likely benign not provided 2019-02-14 criteria provided, single submitter clinical testing
GeneDx RCV000430101 SCV000523812 likely benign not specified 2016-01-27 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 RCV000561310 SCV000661008 likely benign Hereditary cancer-predisposing syndrome 2016-03-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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