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 Congenital disorder of glycosylation type 1D no assertion criteria provided research

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