ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5502del (p.His1834fs)

dbSNP: rs1565987758
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760236 SCV000890067 pathogenic Transposition of the great arteries, dextro-looped; Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2018-07-19 criteria provided, single submitter clinical testing

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