ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.15C>A (p.Cys5Ter)

dbSNP: rs752922461
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173489 SCV000224607 pathogenic not provided 2015-03-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500456 SCV002810483 pathogenic ALG1-congenital disorder of glycosylation 2021-08-18 criteria provided, single submitter clinical testing
University of Washington Center for Mendelian Genomics, University of Washington RCV000851233 SCV000993485 likely pathogenic Congenital disorder of glycosylation 2017-05-25 no assertion criteria provided research

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