ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.453+25A>G (rs4647246)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030225 SCV000106717 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability <0.001
Integrated Genetics/Laboratory Corporation of America RCV000030225 SCV000052892 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
GeneDx RCV000829444 SCV000971174 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202105 SCV000257099 likely benign not specified no assertion criteria provided clinical testing

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