ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.444A>G (p.Leu148=)

dbSNP: rs868629668
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001186156 SCV001352507 likely benign Hereditary cancer-predisposing syndrome 2018-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001410450 SCV001612497 likely benign Hereditary nonpolyposis colorectal neoplasms 2025-01-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003272 SCV004829242 likely benign Lynch syndrome 2023-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001186156 SCV005032933 likely benign Hereditary cancer-predisposing syndrome 2023-12-18 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.
Breakthrough Genomics, Breakthrough Genomics RCV004711422 SCV005256871 likely benign not provided criteria provided, single submitter not provided

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