ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.163_196+3del (rs1560166870)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lab Thiel (Congenital Disorders of Glycosylation),Center for Child and Adolescent Medicine RCV000754644 SCV000864228 pathogenic ALG3-CDG no assertion criteria provided research

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