ClinVar Miner

Submissions for variant NM_024496.4(IRF2BPL):c.1912C>T (p.His638Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004764422 SCV005373818 uncertain significance Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 2024-09-22 criteria provided, single submitter clinical testing

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