ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.804C>T (p.Leu268=)

gnomAD frequency: 0.00004  dbSNP: rs377077333
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001493630 SCV001698265 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001493630 SCV002802924 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2021-12-22 criteria provided, single submitter clinical testing

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