ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.6485C>T (p.Thr2162Met) (rs869312707)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209918 SCV000265602 pathogenic Mental retardation and distinctive facial features with or without cardiac defects 2015-12-10 criteria provided, single submitter research
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268238 SCV001447022 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001268238 SCV001805091 pathogenic not provided 2020-11-24 no assertion criteria provided clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29511999, 28554332, 31337854)

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