ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2061G>A (p.Arg687=)

dbSNP: rs1553664545
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000560953 SCV000669554 likely benign Hereditary cancer-predisposing syndrome 2016-02-01 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 RCV001391805 SCV001593436 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-09-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000560953 SCV004359268 likely benign Hereditary cancer-predisposing syndrome 2022-05-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001026 SCV004843265 likely benign Lynch syndrome 2023-07-10 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000919022 SCV001554058 uncertain significance not provided no assertion criteria provided clinical testing

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