ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.991C>T (p.Gln331Ter)

dbSNP: rs1553827968
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624784 SCV000742230 pathogenic Inborn genetic diseases 2017-02-07 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV001543407 SCV001761965 pathogenic ALG3-congenital disorder of glycosylation no assertion criteria provided research

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