ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.539+16G>A

gnomAD frequency: 0.00311  dbSNP: rs189715949
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434268 SCV000521840 likely benign not specified 2017-04-20 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 RCV002062466 SCV002430909 benign ALG1-congenital disorder of glycosylation 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002062466 SCV002794606 likely benign ALG1-congenital disorder of glycosylation 2021-09-28 criteria provided, single submitter clinical testing

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