ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.657A>G (p.Arg219=)

dbSNP: rs2104099323
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001435670 SCV001638496 likely benign Hereditary nonpolyposis colorectal neoplasms 2021-12-11 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259125 SCV002534548 likely benign Hereditary cancer-predisposing syndrome 2022-01-13 criteria provided, single submitter curation
Ambry Genetics RCV002259125 SCV002663354 likely benign Hereditary cancer-predisposing syndrome 2021-03-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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