ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.93_94insT (p.Leu32fs)

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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 RCV003990289 SCV004806772 likely pathogenic Polyglandular autoimmune syndrome, type 1 2024-03-26 criteria provided, single submitter clinical testing

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