ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1188C>T (p.Leu396=)

gnomAD frequency: 0.00001  dbSNP: rs786202626
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466485 SCV000561516 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569045 SCV000670045 likely benign Hereditary cancer-predisposing syndrome 2017-02-08 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 RCV000569045 SCV000685177 likely benign Hereditary cancer-predisposing syndrome 2017-03-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284012 SCV001469564 likely benign not provided 2019-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535484 SCV004751968 likely benign MSH6-related disorder 2019-06-20 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 RCV004002170 SCV004843103 likely benign Lynch syndrome 2023-10-30 criteria provided, single submitter clinical testing

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