ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.307-29C>A (rs139620056)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000829443 SCV000971173 likely benign not provided 2018-06-17 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.
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000209433 SCV000679730 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075643 SCV000106649 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability <0.001
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202118 SCV000257096 likely benign not specified no assertion criteria provided clinical testing
University of Washington Department of Laboratory Medicine,University of Washington RCV000209433 SCV000265270 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing

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