ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.298_315del (p.Leu100_Ser105del)

dbSNP: rs1763043820
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001254108 SCV001430038 likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2020-02-24 criteria provided, single submitter clinical testing

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