ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.735A>G (p.Arg245=)

dbSNP: rs1581036630
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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 RCV000951915 SCV001098366 likely benign PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2023-07-10 criteria provided, single submitter clinical testing

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