ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3708T>C (p.Ala1236=)

dbSNP: rs1553333043
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538301 SCV000624904 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-10-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001186968 SCV001353591 likely benign Hereditary cancer-predisposing syndrome 2019-04-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001186968 SCV002620595 likely benign Hereditary cancer-predisposing syndrome 2019-10-26 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.
PreventionGenetics, part of Exact Sciences RCV004541641 SCV004768157 likely benign MSH6-related disorder 2022-11-23 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 RCV004003697 SCV004835117 likely benign Lynch syndrome 2023-06-26 criteria provided, single submitter clinical testing

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