ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1524G>A (p.Val508=)

gnomAD frequency: 0.00001  dbSNP: rs878853705
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436191 SCV000518477 likely benign not specified 2017-06-16 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000459794 SCV000561438 likely benign Hereditary nonpolyposis colorectal neoplasms 2025-01-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775911 SCV000910396 likely benign Hereditary cancer-predisposing syndrome 2018-04-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000436191 SCV001158279 likely benign not specified 2019-03-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000775911 SCV002535633 likely benign Hereditary cancer-predisposing syndrome 2022-03-08 criteria provided, single submitter curation
Ambry Genetics RCV000775911 SCV002709642 likely benign Hereditary cancer-predisposing syndrome 2019-08-21 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 RCV003996044 SCV004839373 likely benign Lynch syndrome 2023-05-04 criteria provided, single submitter clinical testing

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