ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.285T>C (p.Val95=)

gnomAD frequency: 0.00001  dbSNP: rs1369335343
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001430035 SCV001632759 likely benign Hereditary nonpolyposis colorectal neoplasms 2018-10-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478113 SCV004220998 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003751 SCV004843803 likely benign Lynch syndrome 2023-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023721 SCV005033620 likely benign Hereditary cancer-predisposing syndrome 2024-03-02 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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