ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1199C>T (p.Pro400Leu)

gnomAD frequency: 0.00212  dbSNP: rs142366324
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000962846 SCV001109952 benign Polyglandular autoimmune syndrome, type 1 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000962846 SCV001464222 benign Polyglandular autoimmune syndrome, type 1 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003916100 SCV004734143 likely benign AIRE-related disorder 2021-06-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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