ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.693C>T (p.Phe231=)

gnomAD frequency: 0.00001  dbSNP: rs750557574
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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 RCV001462130 SCV001666042 likely benign PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2024-10-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004801020 SCV005423601 likely benign not specified 2024-10-01 criteria provided, single submitter clinical testing

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