ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.242T>C (p.Leu81Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health RCV003329568 SCV004036191 likely pathogenic Polyglandular autoimmune syndrome, type 1 2023-09-14 criteria provided, single submitter clinical testing

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