ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.299T>C (p.Leu100Pro)

dbSNP: rs587782995
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000149573 SCV000746572 likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2017-08-05 criteria provided, single submitter clinical testing
Whole genome laboratory; Baylor College of Medicine RCV000144525 SCV000189117 pathogenic Global developmental delay; Seizure; Delayed speech and language development; Intellectual disability; Neonatal hypotonia 2014-09-15 no assertion criteria provided clinical testing
OMIM RCV000149573 SCV000196549 pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2014-11-06 no assertion criteria provided literature only

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