ClinVar Miner

Submissions for variant NM_005859.5(PURA):c.117C>T (p.Gly39=)

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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 RCV002937999 SCV003263103 likely benign PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 2022-07-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003898603 SCV004714982 likely benign PURA-related disorder 2021-02-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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