ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.317T>A (p.Val106Glu)

dbSNP: rs137853589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Human Genetics RCV000014597 SCV001482510 pathogenic Glycogen storage disease IXc 2020-08-27 criteria provided, single submitter clinical testing disease causing
OMIM RCV000014597 SCV000034851 pathogenic Glycogen storage disease IXc 1996-11-01 no assertion criteria provided literature only

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