ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.539del (p.Pro180fs)

dbSNP: rs2053379013
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Human Genetics RCV001293805 SCV001482512 pathogenic Glycogen storage disease IXc 2020-08-27 criteria provided, single submitter clinical testing disease causing

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