ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1947A>C (p.Ala649=)

dbSNP: rs1424365573
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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 RCV001476227 SCV001680433 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-12-20 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005247165 SCV005896238 benign Lynch syndrome 1 2024-12-11 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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