ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.408C>T (p.Asp136=)

dbSNP: rs878853746
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000233238 SCV000528199 likely benign not provided 2021-04-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569012 SCV000673917 likely benign Hereditary cancer-predisposing syndrome 2016-04-13 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.
Color Diagnostics, LLC DBA Color Health RCV000569012 SCV000905514 likely benign Hereditary cancer-predisposing syndrome 2018-07-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000418892 SCV001363794 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Invitae RCV001392141 SCV001593776 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-08-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000233238 SCV002774200 likely benign not provided 2021-08-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532834 SCV004708397 likely benign MSH6-related disorder 2020-11-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV003998731 SCV004829186 likely benign Lynch syndrome 2023-08-15 criteria provided, single submitter clinical testing

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