ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.653-5C>T

gnomAD frequency: 0.00001  dbSNP: rs771182213
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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 RCV000633448 SCV000754674 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965319 SCV004777532 likely benign AIRE-related disorder 2019-04-05 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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