ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1095T>A (p.Ala365=)

dbSNP: rs746989189
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001487219 SCV001691704 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001806205 SCV002051984 likely benign Hereditary cancer-predisposing syndrome 2021-04-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004808070 SCV005429088 likely benign Lynch syndrome 2024-07-29 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005247203 SCV005894946 benign Lynch syndrome 1 2024-12-06 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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