ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.4014G>C (p.Leu1338=)

dbSNP: rs61748086
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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 RCV000223014 SCV000273008 likely benign Hereditary cancer-predisposing syndrome 2015-01-18 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.
Color Diagnostics, LLC DBA Color Health RCV000223014 SCV000690435 likely benign Hereditary cancer-predisposing syndrome 2017-06-19 criteria provided, single submitter clinical testing
Invitae RCV000944092 SCV001090054 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532773 SCV004713897 likely benign MSH6-related disorder 2020-12-18 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 RCV003997761 SCV004835197 likely benign Lynch syndrome 2023-09-18 criteria provided, single submitter clinical testing

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