ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1278+7G>A

dbSNP: rs564103678
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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 RCV000944149 SCV001090113 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925847 SCV004750714 likely benign AIRE-related disorder 2019-06-06 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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