ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.705G>A (p.Lys235=)

gnomAD frequency: 0.00011  dbSNP: rs145255118
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000907628 SCV001052344 likely benign Polyglandular autoimmune syndrome, type 1 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000907628 SCV001460106 likely benign Polyglandular autoimmune syndrome, type 1 2020-06-05 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702570 SCV001931716 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702570 SCV001966970 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004754622 SCV005353604 likely benign AIRE-related disorder 2024-08-14 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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