ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.342T>C (p.Thr114=)

dbSNP: rs1057520553
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720015 SCV000516013 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572844 SCV000662049 likely benign Hereditary cancer-predisposing syndrome 2015-12-21 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.
Invitae RCV000939331 SCV001085173 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330666 SCV004037794 likely benign not specified 2023-08-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996022 SCV004835268 likely benign Lynch syndrome 2023-07-10 criteria provided, single submitter clinical testing

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