ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.646C>T (p.Leu216=)

dbSNP: rs749665480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670714 SCV000795606 uncertain significance Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2017-11-10 criteria provided, single submitter clinical testing
Invitae RCV000670714 SCV001698669 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2018-12-13 criteria provided, single submitter clinical testing

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