ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.562+7G>A

gnomAD frequency: 0.00001  dbSNP: rs2056082387
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001405678 SCV001607615 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2022-12-16 criteria provided, single submitter clinical testing

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