ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.468G>A (p.Trp156Ter) (rs2056081389)

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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 RCV001293639 SCV001482273 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2013-06-11 criteria provided, single submitter clinical testing disease causing

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