ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys)

dbSNP: rs1603398740
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990885 SCV001141938 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2019-05-28 criteria provided, single submitter clinical testing

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