ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.461G>C (p.Arg154Pro)

dbSNP: rs781124934
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196113 SCV001366584 likely pathogenic Glycogen storage disease, type II 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic.

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