ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6717A>G (p.Glu2239=)

dbSNP: rs1057522192
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431376 SCV000526566 likely benign not specified 2016-04-04 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.
Color Diagnostics, LLC DBA Color Health RCV001188613 SCV001355697 likely benign Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090790 SCV005729493 likely benign Hereditary breast ovarian cancer syndrome 2024-03-03 criteria provided, single submitter clinical testing

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