ClinVar Miner

Submissions for variant NM_019109.5(ALG1):c.334A>C (p.Met112Leu)

gnomAD frequency: 0.00315  dbSNP: rs113219939
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430794 SCV000524980 benign not specified 2016-04-25 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 RCV000647911 SCV000769717 benign ALG1-congenital disorder of glycosylation 2024-02-01 criteria provided, single submitter clinical testing

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