ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1158C>T (p.Ala386=)

gnomAD frequency: 0.00011  dbSNP: rs199555518
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 RCV000903224 SCV001047681 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000903224 SCV001464221 likely benign Polyglandular autoimmune syndrome, type 1 2020-06-23 no assertion criteria provided clinical testing

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