ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.2253A>G (p.Leu751=)

gnomAD frequency: 0.00004  dbSNP: rs748465953
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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 RCV002000124 SCV002230135 likely benign Colorectal cancer, hereditary nonpolyposis, type 7 2023-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004044354 SCV002732191 likely benign not specified 2022-03-12 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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