ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1096-288G>A

gnomAD frequency: 0.30258  dbSNP: rs933150
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543298 SCV001761841 benign Polyglandular autoimmune syndrome, type 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001692476 SCV001915354 benign not provided 2018-11-10 criteria provided, single submitter clinical testing

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