ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4132G>T (p.Glu1378Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Metabolism Laboratory, West China Second University Hospital, Sichuan University RCV003214132 SCV003914809 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2023-03-21 criteria provided, single submitter clinical testing

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