ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2059C>A (p.Arg687=)

dbSNP: rs63751275
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564963 SCV000669592 likely benign Hereditary cancer-predisposing syndrome 2024-07-31 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001220366 SCV001392352 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-04-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000564963 SCV001735572 likely benign Hereditary cancer-predisposing syndrome 2020-09-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001029 SCV004843263 likely benign Lynch syndrome 2023-06-26 criteria provided, single submitter clinical testing

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