ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1800C>T (p.Arg600=)

dbSNP: rs1598584611
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001430514 SCV001633256 likely benign Glycogen storage disease, type II 2023-11-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940764 SCV004751691 likely benign GAA-related disorder 2022-10-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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