ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.791-14T>C

gnomAD frequency: 0.00001  dbSNP: rs751254837
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409272 SCV000488919 likely benign Colorectal cancer, hereditary nonpolyposis, type 2 2016-07-18 criteria provided, single submitter clinical testing
GeneDx RCV000423401 SCV000513616 likely benign not specified 2017-01-10 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.
Color Diagnostics, LLC DBA Color Health RCV000580579 SCV000684868 likely benign Hereditary cancer-predisposing syndrome 2017-03-20 criteria provided, single submitter clinical testing
Invitae RCV002058846 SCV002394912 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-18 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000423401 SCV002552443 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000409272 SCV004020258 benign Colorectal cancer, hereditary nonpolyposis, type 2 2023-03-10 criteria provided, single submitter clinical testing This variant is considered benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].
All of Us Research Program, National Institutes of Health RCV003995910 SCV004822620 likely benign Lynch syndrome 2023-08-28 criteria provided, single submitter clinical testing

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