ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.427G>A (p.Glu143Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital RCV003128116 SCV003804283 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency criteria provided, single submitter clinical testing

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