ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.850_851del (p.Leu284fs)

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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 RCV004764725 SCV005374363 likely pathogenic Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 2024-09-22 criteria provided, single submitter clinical testing

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