ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1404G>C (p.Thr468=)

dbSNP: rs7281600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547871 SCV000629948 benign Polyglandular autoimmune syndrome, type 1 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905342 SCV004722869 likely benign AIRE-related disorder 2019-06-18 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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