ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.498G>A (p.Pro166=)

gnomAD frequency: 0.00002  dbSNP: rs372169498
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001457912 SCV001661724 likely benign Polyglandular autoimmune syndrome, type 1 2023-08-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820150 SCV002065678 likely benign not specified 2018-09-07 criteria provided, single submitter clinical testing

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