ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.800C>T (p.Thr267Met)

gnomAD frequency: 0.00004  dbSNP: rs145296477
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001267763 SCV001660265 likely benign Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2023-12-21 criteria provided, single submitter clinical testing
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267763 SCV001424079 likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2020-05-21 no assertion criteria provided clinical testing

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