ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.558C>T (p.His186=)

dbSNP: rs63751050
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525382 SCV000625177 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000615509 SCV000720814 likely benign not specified 2017-06-29 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.
Ambry Genetics RCV001024300 SCV001186288 likely benign Hereditary cancer-predisposing syndrome 2018-08-14 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.
Sema4, Sema4 RCV001024300 SCV002528753 likely benign Hereditary cancer-predisposing syndrome 2022-01-12 criteria provided, single submitter curation
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492416 SCV004240757 likely benign Breast and/or ovarian cancer 2023-06-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001024300 SCV004359190 likely benign Hereditary cancer-predisposing syndrome 2022-05-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003997134 SCV004835300 likely benign Lynch syndrome 2023-12-13 criteria provided, single submitter clinical testing

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