ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.126C>T (p.Phe42=)

dbSNP: rs730881766
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001483039 SCV001687420 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-02-17 criteria provided, single submitter clinical testing
GeneDx RCV001647299 SCV001858211 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005247186 SCV005899024 benign Lynch syndrome 1 2024-12-03 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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