ClinVar Miner

Submissions for variant NM_033087.4(ALG2):c.30C>G (p.Asp10Glu)

gnomAD frequency: 0.01515  dbSNP: rs7023652
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224585 SCV000281390 likely benign not provided 2016-02-10 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Eurofins Ntd Llc (ga) RCV000392183 SCV000339351 benign not specified 2016-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000392183 SCV000521841 benign not specified 2015-12-23 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 RCV001079173 SCV000639597 benign ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 2024-01-30 criteria provided, single submitter clinical testing

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