ClinVar Miner

Submissions for variant NM_000320.3(QDPR):c.410_421dup (p.Ala140_Leu141insProLysAlaAla)

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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 RCV003993572 SCV004809561 uncertain significance Dihydropteridine reductase deficiency 2024-04-04 criteria provided, single submitter clinical testing

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