ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.786C>T (p.Leu262=)

gnomAD frequency: 0.00005  dbSNP: rs138509513
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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 RCV000896202 SCV001040283 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2023-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000896202 SCV002802584 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2022-04-07 criteria provided, single submitter clinical testing

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