ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.351C>T (p.Ala117=)

gnomAD frequency: 0.00004  dbSNP: rs201929488
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000940797 SCV001086664 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000940797 SCV002811832 likely benign Polyglandular autoimmune syndrome, type 1 2021-07-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000940797 SCV001460096 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004754641 SCV005359673 likely benign AIRE-related disorder 2024-09-19 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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