ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2996+1G>A

dbSNP: rs1878413465
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Total submissions: 2
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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 RCV001253414 SCV001429114 likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2017-12-07 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV002279969 SCV002568846 pathogenic not provided criteria provided, single submitter clinical testing

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