ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.756T>C (p.Arg252=) (rs786201338)

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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) RCV000409124 SCV000578252 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 RCV000163412 SCV000213955 likely benign Hereditary cancer-predisposing syndrome 2017-09-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000230433 SCV000289844 likely benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Counsyl RCV000409124 SCV000488959 likely benign Breast-ovarian cancer, familial 1 2016-07-27 criteria provided, single submitter clinical testing
GeneDx RCV000439210 SCV000524812 likely benign not specified 2016-02-22 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.

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