ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3246G>C (p.Pro1082=)

dbSNP: rs3136351
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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 RCV000165764 SCV000216509 likely benign Hereditary cancer-predisposing syndrome 2014-09-15 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.
Invitae RCV000231535 SCV000283795 benign Hereditary nonpolyposis colorectal neoplasms 2024-01-27 criteria provided, single submitter clinical testing
Counsyl RCV000409954 SCV000488273 likely benign Lynch syndrome 5 2016-02-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165764 SCV000685372 likely benign Hereditary cancer-predisposing syndrome 2016-05-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194367 SCV001363855 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000409954 SCV004018880 benign Lynch syndrome 5 2023-03-28 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
All of Us Research Program, National Institutes of Health RCV003995454 SCV004835019 likely benign Lynch syndrome 2023-12-01 criteria provided, single submitter clinical testing

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