ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.45G>C (p.Val15=)

gnomAD frequency: 0.00002  dbSNP: rs768409958
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507414 SCV000601402 likely benign not specified 2017-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000533471 SCV000625166 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-11-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575388 SCV000662035 likely benign Hereditary cancer-predisposing syndrome 2016-08-16 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 RCV001722429 SCV000717286 likely benign not provided 2021-02-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000575388 SCV001350536 likely benign Hereditary cancer-predisposing syndrome 2018-11-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000507414 SCV001774493 likely benign not specified 2021-07-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003544 SCV004835219 likely benign Lynch syndrome 2023-11-20 criteria provided, single submitter clinical testing

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