ClinVar Miner

Submissions for variant NM_203447.4:c.-469_156+28del

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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 RCV003991652 SCV004809760 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2024-04-04 criteria provided, single submitter clinical testing

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