ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.285G>A (p.Glu95=)

gnomAD frequency: 0.00003  dbSNP: rs369067732
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001491417 SCV001696011 likely benign Colorectal cancer, hereditary nonpolyposis, type 7 2024-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028360 SCV002745855 likely benign not specified 2020-02-03 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.

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