ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.307-19A>G

gnomAD frequency: 0.00022  dbSNP: rs121909451
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075640 SCV000106647 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Intronic variant with no effect on splicing & MAF 0.01-1%
GeneDx RCV000157756 SCV000170285 benign not specified 2013-12-24 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 RCV000579744 SCV000684818 benign Hereditary cancer-predisposing syndrome 2015-04-25 criteria provided, single submitter clinical testing
Mendelics RCV000987149 SCV001136372 likely benign Colorectal cancer, hereditary nonpolyposis, type 2 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV002054914 SCV002364615 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-30 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000157756 SCV002552420 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000579744 SCV002753741 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing This alteration is classified as 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.
Fulgent Genetics, Fulgent Genetics RCV002504979 SCV002810778 likely benign Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Colorectal cancer, hereditary nonpolyposis, type 2 2021-11-24 criteria provided, single submitter clinical testing
Narod's Lab, University of Toronto RCV000059814 SCV000091384 not provided not provided no assertion provided not provided

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