ClinVar Miner

Submissions for variant NM_000270.4(PNP):c.437C>T (p.Pro146Leu)

dbSNP: rs1594427504
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788367 SCV000927451 likely pathogenic not provided 2017-10-26 criteria provided, single submitter clinical testing
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001824147 SCV002073801 likely pathogenic Purine-nucleoside phosphorylase deficiency criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001824147 SCV004807481 pathogenic Purine-nucleoside phosphorylase deficiency 2024-03-29 criteria provided, single submitter clinical testing

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