ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1563C>T (p.Ser521=)

gnomAD frequency: 0.00003  dbSNP: rs746873146
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
Invitae RCV000809903 SCV000950085 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000809903 SCV001464233 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-03-11 no assertion criteria provided clinical testing

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