ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.1272G>A (p.Pro424=)

gnomAD frequency: 0.00003  dbSNP: rs372724502
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000607781 SCV000722530 likely benign not specified 2017-09-18 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 RCV000877191 SCV001019891 benign ALG3-congenital disorder of glycosylation 2022-10-30 criteria provided, single submitter clinical testing

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