ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1547G>A (p.Trp516Ter)

dbSNP: rs2039217093
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263724 SCV001441817 likely pathogenic Glycogen storage disease, type II 2019-05-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001780215 SCV002023840 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing

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