ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.227A>C (p.Asp76Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003314512 SCV004013963 likely pathogenic PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2022-10-27 criteria provided, single submitter clinical testing PS2, PM1, PM2, PP3

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