ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.892A>G (p.Thr298Ala)

gnomAD frequency: 0.00003  dbSNP: rs782119990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001106 SCV001158243 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2019-03-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001001106 SCV005678890 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2024-04-25 criteria provided, single submitter clinical testing

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