ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.390G>A (p.Pro130=)

gnomAD frequency: 0.00003  dbSNP: rs771038985
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000920521 SCV001065889 likely benign PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2025-02-02 criteria provided, single submitter clinical testing

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