ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.108T>C (p.Ile36=)

gnomAD frequency: 0.00001  dbSNP: rs730881747
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166061 SCV000216823 likely benign Hereditary cancer-predisposing syndrome 2014-09-25 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.
GeneDx RCV000679264 SCV000528571 likely benign not provided 2018-07-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166061 SCV000689789 likely benign Hereditary cancer-predisposing syndrome 2017-08-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080089 SCV000751264 likely benign Hereditary nonpolyposis colorectal neoplasms 2025-01-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679264 SCV000805942 likely benign not provided 2018-01-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679264 SCV000888171 likely benign not provided 2018-01-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000444532 SCV001360802 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995475 SCV004835239 likely benign Lynch syndrome 2023-04-03 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000166061 SCV000788016 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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