ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1567-2A>G

dbSNP: rs1555873650
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666886 SCV000791255 pathogenic Polyglandular autoimmune syndrome, type 1 2017-05-15 criteria provided, single submitter clinical testing
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health RCV000666886 SCV004036181 pathogenic Polyglandular autoimmune syndrome, type 1 2023-09-14 criteria provided, single submitter clinical testing

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