ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.708C>T (p.Phe236=)

dbSNP: rs908180454
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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 RCV001401145 SCV001602966 likely benign Polyglandular autoimmune syndrome, type 1 2023-09-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001401145 SCV002083869 likely benign Polyglandular autoimmune syndrome, type 1 2020-01-14 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003936216 SCV004756571 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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