ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1483C>T (p.Leu495=)

gnomAD frequency: 0.00024  dbSNP: rs376909088
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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 RCV000551330 SCV000629951 benign Polyglandular autoimmune syndrome, type 1 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001712490 SCV001944412 likely benign not provided 2018-12-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821514 SCV002068992 likely benign not specified 2020-04-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962478 SCV004781626 benign AIRE-related disorder 2019-08-14 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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