ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.806T>G (p.Leu269Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003333551 SCV004041220 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2023-03-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003333551 SCV005678888 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2024-06-08 criteria provided, single submitter clinical testing

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