ClinVar Miner

Submissions for variant NM_000292.3(PHKA2):c.235C>T (p.Gln79Ter)

dbSNP: rs1601780766
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995833 SCV001150202 pathogenic Glycogen storage disease IXa1 2018-06-08 criteria provided, single submitter clinical testing

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