ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.605T>C (p.Leu202Pro)

dbSNP: rs1561793336
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000678909 SCV000805113 likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2018-05-15 criteria provided, single submitter research

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