ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1242A>T (p.Leu414=)

dbSNP: rs757250110
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214714 SCV000277434 likely benign Hereditary cancer-predisposing syndrome 2015-07-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001394116 SCV001595798 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-09-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000214714 SCV001734280 likely benign Hereditary cancer-predisposing syndrome 2020-06-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001532959 SCV001748780 likely benign not specified 2021-07-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998030 SCV004832668 likely benign Lynch syndrome 2023-04-03 criteria provided, single submitter clinical testing

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