ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1338T>C (p.Cys446=)

gnomAD frequency: 0.00001  dbSNP: rs979048802
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 RCV001278844 SCV001632952 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278844 SCV001465890 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-08-13 no assertion criteria provided clinical testing

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