ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1989T>G (p.Thr663=)

dbSNP: rs1057520324
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439714 SCV000520799 likely benign not specified 2015-12-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000630240 SCV000751196 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168645 SCV003867463 likely benign Hereditary cancer-predisposing syndrome 2022-12-26 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.
All of Us Research Program, National Institutes of Health RCV004000342 SCV004838236 likely benign Lynch syndrome 2023-12-18 criteria provided, single submitter clinical testing

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