ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.27G>A (p.Glu9=)

gnomAD frequency: 0.00003  dbSNP: rs1481319515
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001673579 SCV001885444 benign not provided 2020-06-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016)
Labcorp Genetics (formerly Invitae), Labcorp RCV003586302 SCV004327001 likely benign PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2024-02-20 criteria provided, single submitter clinical testing

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