ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1323G>A (p.Thr441=)

gnomAD frequency: 0.00007  dbSNP: rs201945690
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000931500 SCV001077168 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000931500 SCV001464224 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-01-10 no assertion criteria provided clinical testing

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