ClinVar Miner

Submissions for variant NM_033087.4(ALG2):c.258C>T (p.Ala86=)

dbSNP: rs1057521308
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435857 SCV000522164 likely benign not specified 2016-02-03 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 RCV002521606 SCV003482236 likely benign ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 2022-07-21 criteria provided, single submitter clinical testing

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