ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.603G>A (p.Glu201=)

dbSNP: rs587779314
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000524209 SCV000254330 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000216339 SCV000273985 likely benign Hereditary cancer-predisposing syndrome 2015-02-03 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.
GeneDx RCV000443462 SCV000513679 likely benign not specified 2016-02-11 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 RCV000216339 SCV001350913 likely benign Hereditary cancer-predisposing syndrome 2022-01-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997100 SCV004841104 likely benign Lynch syndrome 2023-12-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV005243112 SCV005891787 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing MSH6: BP4, BP7
True Health Diagnostics RCV000216339 SCV000788056 likely benign Hereditary cancer-predisposing syndrome 2017-11-14 no assertion criteria provided clinical testing

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