ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.932G>A (p.Cys311Tyr)

dbSNP: rs386833674
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049634 SCV000082041 probable-pathogenic Polyglandular autoimmune syndrome, type 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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