ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.1071_1074del (p.Glu358fs)

dbSNP: rs1590556722
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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 RCV000768435 SCV000899193 pathogenic Cornelia de Lange syndrome 3 no assertion criteria provided case-control

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