ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3897C>G (p.Gly1299=)

dbSNP: rs1558393788
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780469 SCV000917742 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001190393 SCV001357858 likely benign Hereditary cancer-predisposing syndrome 2018-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001418536 SCV001620766 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001190393 SCV002620918 likely benign Hereditary cancer-predisposing syndrome 2022-10-06 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.
All of Us Research Program, National Institutes of Health RCV004001519 SCV004835163 likely benign Lynch syndrome 2023-11-20 criteria provided, single submitter clinical testing

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