ClinVar Miner

Submissions for variant NM_000294.3(PHKG2):c.166del (p.Glu56fs)

dbSNP: rs2543456237
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989423 SCV004808269 likely pathogenic Glycogen storage disease IXc 2024-03-29 criteria provided, single submitter clinical testing

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