ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.430A>G (p.Lys144Glu)

dbSNP: rs1581036396
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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 RCV000824835 SCV000965729 likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2016-01-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001257616 SCV001434426 likely pathogenic Intellectual disability 2020-04-20 criteria provided, single submitter clinical testing

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