ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.528G>C (p.Arg176=)

dbSNP: rs778994348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951849 SCV001098292 likely benign PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2024-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001570978 SCV001795359 likely benign not provided 2020-02-05 criteria provided, single submitter clinical testing

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