ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2319C>A (p.Leu773=)

dbSNP: rs63749895
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074733 SCV000107942 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability 0.001-0.049
Invitae RCV000858952 SCV000561531 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000603690 SCV000716435 likely benign not specified 2017-09-05 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.
Color Diagnostics, LLC DBA Color Health RCV001190574 SCV001358088 likely benign Hereditary cancer-predisposing syndrome 2019-06-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001190574 SCV002535722 likely benign Hereditary cancer-predisposing syndrome 2022-02-17 criteria provided, single submitter curation
Ambry Genetics RCV001190574 SCV002733503 likely benign Hereditary cancer-predisposing syndrome 2015-12-04 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 RCV000074733 SCV004842049 likely benign Lynch syndrome 2023-08-15 criteria provided, single submitter clinical testing

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