ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.57G>A (p.Ala19=)

gnomAD frequency: 0.00003  dbSNP: rs761739665
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 RCV001500314 SCV001705099 likely benign Polyglandular autoimmune syndrome, type 1 2023-06-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704628 SCV005207495 likely benign not provided criteria provided, single submitter not provided

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