ClinVar Miner

Submissions for variant NM_015949.3(GET4):c.837A>G (p.Ile279Met)

dbSNP: rs1844404490
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001788435 SCV002030284 uncertain significance GET4-related disorder 2020-01-20 criteria provided, single submitter clinical testing This individual has been published in PMID: 32395830.
University of Washington Center for Mendelian Genomics, University of Washington RCV001257974 SCV001434787 likely pathogenic GET4 deficiency no assertion criteria provided research
OMIM RCV003152619 SCV003841083 pathogenic Congenital disorder of glycosylation, type IIy 2023-03-08 no assertion criteria provided literature only

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