ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.86T>C (p.Leu29Pro)

dbSNP: rs179363879
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Total submissions: 2
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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 RCV003329239 SCV004036188 pathogenic Polyglandular autoimmune syndrome, type 1 2023-09-14 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059064 SCV000090585 not provided not provided no assertion provided not provided

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