ClinVar Miner

Submissions for variant NM_024496.4(IRF2BPL):c.1552C>T (p.Pro518Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004769901 SCV005379035 uncertain significance not provided 2023-12-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004813245 SCV005438561 uncertain significance Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 2024-12-18 criteria provided, single submitter clinical testing

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