ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1620G>A (p.Ala540=)

gnomAD frequency: 0.00003  dbSNP: rs372219460
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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 RCV001374234 SCV001571032 likely benign Polyglandular autoimmune syndrome, type 1 2023-06-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001374234 SCV002076149 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-03-20 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003918893 SCV004735467 likely benign AIRE-related disorder 2020-05-29 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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