ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.3628G>A (p.Gly1210Arg)

dbSNP: rs1601685360
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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 RCV000856684 SCV000999209 uncertain significance Glycogen storage disease IXa1 2019-11-11 no assertion criteria provided clinical testing

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