ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.6260del (p.Pro2087fs) (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 Mental retardation and distinctive facial features with or without cardiac defects no assertion criteria provided case-control

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