ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs)

dbSNP: rs1601776276
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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 RCV000856686 SCV000999211 likely pathogenic Glycogen storage disease IXa1 2019-11-11 no assertion criteria provided clinical testing

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