ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7671A>G (p.Ala2557=) (rs1057524178)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437537 SCV000534776 likely benign not specified 2016-12-12 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 RCV000437537 SCV000695091 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026691 SCV001189121 likely benign Hereditary cancer-predisposing syndrome 2019-06-10 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign

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