ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1440A>G (p.Val480=)

dbSNP: rs1555600737
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001078646 SCV000626515 likely benign Glycogen storage disease, type II 2022-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000841937 SCV000983928 likely benign not provided 2018-04-09 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.

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