ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4114+2T>A

gnomAD frequency: 0.00001  dbSNP: rs1393295692
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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, University of Leipzig Medical Center RCV001262940 SCV001440998 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2019-01-01 criteria provided, single submitter clinical testing

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