ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.477C>T (p.Cys159=)

gnomAD frequency: 0.00008  dbSNP: rs201087932
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000392229 SCV000442347 uncertain significance Congenital disorder of glycosylation 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000840746 SCV000982685 likely benign not provided 2018-03-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002061231 SCV002321451 benign ALG3-congenital disorder of glycosylation 2022-02-25 criteria provided, single submitter clinical testing

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