ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs)

dbSNP: rs1878068615
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252064 SCV001427812 likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2019-01-01 no assertion criteria provided clinical testing

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