ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.6260del (p.Pro2087fs)

dbSNP: rs1565982697
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemistry Laboratory of CDMU, Chengde Medical University RCV000768427 SCV000899182 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome no assertion criteria provided case-control

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