ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.548C>A (p.Thr183Asn)

gnomAD frequency: 0.00411  dbSNP: rs34219046
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116296 SCV000150214 benign not specified 2013-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000633446 SCV000754672 benign Polyglandular autoimmune syndrome, type 1 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001573633 SCV005276661 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573633 SCV001799806 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000116296 SCV001929797 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000116296 SCV001972048 benign not specified no assertion criteria provided clinical testing

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