ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.307-19A>G (rs121909451)

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Total submissions: 5
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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 RCV000579744 SCV000684818 benign Hereditary cancer-predisposing syndrome 2015-04-25 criteria provided, single submitter clinical testing
Mendelics RCV000987149 SCV001136372 likely benign Lynch syndrome II 2019-05-28 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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