ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.6300del (p.Lys2100fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV004764566 SCV005374092 likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency 2024-09-22 criteria provided, single submitter clinical testing

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