ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val)

dbSNP: rs2148407095
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001751795 SCV001986708 uncertain significance not provided 2020-06-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32681751)
University of Washington Center for Mendelian Genomics, University of Washington RCV001543372 SCV001761930 likely pathogenic Congenital disorder of glycosylation no assertion criteria provided research
Yale Center for Mendelian Genomics, Yale University RCV001849522 SCV002106983 likely pathogenic Seizure; Neurodevelopmental delay; Hypotonia 2021-03-18 no assertion criteria provided literature only

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