ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.747_748del (p.Lys250fs)

dbSNP: rs1592953902
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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 Munich, Klinikum Rechts Der Isar, TU München RCV000995578 SCV001149833 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2019-06-28 criteria provided, single submitter clinical testing

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