ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.496C>T (p.Arg166Cys)

dbSNP: rs1554129096
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000578340 SCV000680112 likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2017-06-01 no assertion criteria provided clinical testing

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