ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.582G>T (p.Gly194=)

gnomAD frequency: 0.00001  dbSNP: rs886603107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503646 SCV000596633 likely benign not specified 2017-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000652455 SCV000774325 likely benign PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2024-05-26 criteria provided, single submitter clinical testing

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