ClinVar Miner

Submissions for variant NM_000151.4(G6PC1):c.592_593del (p.Ile198fs)

dbSNP: rs2151932243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pars Genome Lab RCV001797561 SCV002039158 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2021-12-09 criteria provided, single submitter clinical testing We found this variant in a 6-years-old boy with Glycogen storage disease Ia at homozygous state.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001797561 SCV004171057 pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 2023-11-26 criteria provided, single submitter clinical testing

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