ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.63G>A (p.Ala21=)

gnomAD frequency: 0.00001  dbSNP: rs1553637274
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539542 SCV000625181 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-08-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777196 SCV000912887 likely benign Hereditary cancer-predisposing syndrome 2018-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000777196 SCV002658864 likely benign Hereditary cancer-predisposing syndrome 2020-09-11 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.
All of Us Research Program, National Institutes of Health RCV004003723 SCV004835227 likely benign Lynch syndrome 2023-12-18 criteria provided, single submitter clinical testing

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