ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.178G>T (p.Glu60Ter)

dbSNP: rs1763041722
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001252643 SCV001424766 pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2020-07-26 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274161 SCV002559211 pathogenic PURA Syndrome criteria provided, single submitter clinical testing

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