ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1527C>T (p.Pro509=)

gnomAD frequency: 0.00006  dbSNP: rs746856788
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 RCV001413080 SCV001615185 likely benign Polyglandular autoimmune syndrome, type 1 2024-08-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704534 SCV005207506 likely benign not provided criteria provided, single submitter not provided

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