ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.718-2A>G

dbSNP: rs1601763099
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, Seoul National University Hospital RCV000856688 SCV000999213 pathogenic Glycogen storage disease IXa1 2019-11-11 no assertion criteria provided clinical testing

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