ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.496C>T (p.Leu166=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004050306 SCV002644274 likely benign not specified 2020-12-08 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 RCV003102665 SCV002942834 likely benign Colorectal cancer, hereditary nonpolyposis, type 7 2024-11-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003961008 SCV004784513 likely benign MLH3-related disorder 2019-08-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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