ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.556C>T (p.Gln186Ter)

dbSNP: rs587782993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Whole genome laboratory; Baylor College of Medicine RCV000144523 SCV000189115 pathogenic Global developmental delay; Seizure; Delayed speech and language development; Intellectual disability; Neonatal hypotonia 2014-09-15 no assertion criteria provided clinical testing
OMIM RCV000149571 SCV000196547 pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2014-11-06 no assertion criteria provided literature only

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