ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1173C>T (p.Ala391=)

dbSNP: rs2104439683
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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 RCV001411408 SCV001613471 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-03-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005245896 SCV005898870 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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