ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.457+1_457+3del

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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 RCV003990469 SCV004807142 uncertain significance Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 2024-03-26 criteria provided, single submitter clinical testing

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