ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1567-17G>A

gnomAD frequency: 0.00014  dbSNP: rs376402964
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 RCV002098698 SCV002392027 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704733 SCV005207507 likely benign not provided criteria provided, single submitter not provided

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