ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.219C>A (p.Leu73=)

gnomAD frequency: 0.00001  dbSNP: rs373545775
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001417584 SCV001619789 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2023-12-01 criteria provided, single submitter clinical testing

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