ClinVar Miner

Submissions for variant NM_033087.4(ALG2):c.303G>A (p.Val101=)

gnomAD frequency: 0.00001  dbSNP: rs371910648
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601016 SCV000721238 likely benign not specified 2017-07-31 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063942 SCV002344289 likely benign ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 2023-12-06 criteria provided, single submitter clinical testing

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