ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1293A>G (p.Leu431=)

gnomAD frequency: 0.00001  dbSNP: rs781548186
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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 RCV002104305 SCV002432664 likely benign Hereditary nonpolyposis colorectal neoplasms 2020-11-13 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005247548 SCV005898575 benign Lynch syndrome 1 2024-12-09 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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