ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.207G>A (p.Ala69=)

dbSNP: rs757025193
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164051 SCV000214658 likely benign Hereditary cancer-predisposing syndrome 2014-09-23 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 RCV000477445 SCV000515975 likely benign not provided 2021-11-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000164051 SCV000690243 likely benign Hereditary cancer-predisposing syndrome 2017-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001459910 SCV001663766 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-12-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000164051 SCV002535695 likely benign Hereditary cancer-predisposing syndrome 2022-02-24 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003995308 SCV004828559 likely benign Lynch syndrome 2023-12-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000477445 SCV005263965 likely benign not provided criteria provided, single submitter not provided

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