ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2892A>G (p.Gly964=)

dbSNP: rs1060504553
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616448 SCV000717290 likely benign not specified 2017-03-20 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 RCV001016891 SCV001177893 likely benign Hereditary cancer-predisposing syndrome 2019-06-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001402782 SCV001604637 likely benign Hereditary breast ovarian cancer syndrome 2021-08-23 criteria provided, single submitter clinical testing

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