ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.354C>G (p.Val118=)

gnomAD frequency: 0.00011  dbSNP: rs528667089
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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 RCV000907939 SCV001052671 likely benign Polyglandular autoimmune syndrome, type 1 2025-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438573 SCV004153791 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing AIRE: BP4, BP7
Natera, Inc. RCV000907939 SCV001460097 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-04-20 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003968347 SCV004785716 likely benign AIRE-related disorder 2021-04-26 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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