ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.452_473del (p.Glu151fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital of Duesseldorf RCV004527471 SCV005038666 likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome criteria provided, single submitter not provided

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