ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter)

dbSNP: rs139063441
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262409 SCV001440268 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as de novo.

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