ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1578T>C (p.Asp526=)

gnomAD frequency: 0.49415  dbSNP: rs1133779
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116300 SCV000303917 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000116300 SCV000612309 benign not specified 2017-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001273734 SCV001720464 benign Polyglandular autoimmune syndrome, type 1 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001273734 SCV001761844 benign Polyglandular autoimmune syndrome, type 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001636656 SCV001851349 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000116300 SCV004101995 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 63% of patients studied by a panel of primary immunodeficiencies. Number of patients: 60. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001636656 SCV005278265 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116300 SCV000150218 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV001273734 SCV001457194 benign Polyglandular autoimmune syndrome, type 1 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000116300 SCV001744696 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000116300 SCV001926459 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000116300 SCV001951675 benign not specified no assertion criteria provided clinical testing

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