ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.50del (p.Ser17fs)

dbSNP: rs1554129008
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677701 SCV000803849 likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2017-06-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222097 SCV003916989 likely pathogenic not provided 2023-03-01 criteria provided, single submitter clinical testing PURA: PVS1:Strong, PM2, PS2:Moderate

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