ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.42G>C (p.Ala14=)

dbSNP: rs374396150
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002167331 SCV002333113 likely benign Hereditary nonpolyposis colorectal neoplasms 2021-03-21 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005247364 SCV005899775 benign Lynch syndrome 1 2024-12-02 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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