ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.498C>T (p.Tyr166=)

gnomAD frequency: 0.00001  dbSNP: rs587779313
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703973 SCV000515851 likely benign not provided 2018-04-23 criteria provided, single submitter clinical testing
Invitae RCV000979768 SCV001127713 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023372 SCV001185239 likely benign Hereditary cancer-predisposing syndrome 2017-11-27 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 RCV004537283 SCV004713292 likely benign MSH6-related disorder 2022-01-18 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 RCV003997099 SCV004830949 likely benign Lynch syndrome 2023-06-26 criteria provided, single submitter clinical testing

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