ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2094A>G (p.Ser698=)

gnomAD frequency: 0.00001  dbSNP: rs786202433
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165242 SCV000215956 likely benign Hereditary cancer-predisposing syndrome 2014-07-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000226776 SCV000284048 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000420728 SCV000527283 likely benign not specified 2016-04-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000420728 SCV000696138 likely benign not specified 2019-09-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165242 SCV001346834 likely benign Hereditary cancer-predisposing syndrome 2018-10-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000165242 SCV002528714 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-16 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003995408 SCV004843278 likely benign Lynch syndrome 2024-07-29 criteria provided, single submitter clinical testing

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