ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1394G>A (p.Arg465Gln)

gnomAD frequency: 0.00011  dbSNP: rs139835427
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222357 SCV001394454 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001222357 SCV002076129 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-03-13 no assertion criteria provided clinical testing

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