ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5057C>T (p.Thr1686Met)

dbSNP: rs1877397719
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001779337 SCV001976907 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2021-11-06 criteria provided, single submitter clinical testing PM2, PP2, PP3 Segregation study is incomplete for the de novo origin.
GeneDx RCV001773776 SCV001993445 uncertain significance not provided 2019-08-12 criteria provided, single submitter 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; Has not been previously published as pathogenic or benign to our knowledge

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