ClinVar Miner

Submissions for variant NM_000270.4(PNP):c.12-1G>C

dbSNP: rs2139335095
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001782663 SCV002073800 likely pathogenic Purine-nucleoside phosphorylase deficiency criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001782663 SCV003924333 pathogenic Purine-nucleoside phosphorylase deficiency 2023-05-08 criteria provided, single submitter research
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004040808 SCV005016535 pathogenic Immunodeficiency due to purine nucleoside phosphorylase deficiency 2024-03-14 criteria provided, single submitter clinical testing

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