ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.902-20G>A

gnomAD frequency: 0.00059  dbSNP: rs74249172
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418919 SCV000522915 likely benign not specified 2016-02-10 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 RCV002065028 SCV002408927 benign ALG1-congenital disorder of glycosylation 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002065028 SCV002802185 benign ALG1-congenital disorder of glycosylation 2021-08-12 criteria provided, single submitter clinical testing

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