ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.834C>G (p.Ser278Arg)

dbSNP: rs1800520
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000116303 SCV000232056 benign not specified 2014-10-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000116303 SCV000303920 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710497 SCV000840732 benign not provided 2017-10-11 criteria provided, single submitter clinical testing
Invitae RCV001271173 SCV001720461 benign Polyglandular autoimmune syndrome, type 1 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271173 SCV001761838 benign Polyglandular autoimmune syndrome, type 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000710497 SCV001944343 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21505073, 19322061, 25525159, 12542742)
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000116303 SCV004102516 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 23% of patients studied by a panel of primary immunodeficiencies. Number of patients: 22. Only high quality variants are reported.
Genetic Services Laboratory, University of Chicago RCV000116303 SCV000150221 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. RCV001271173 SCV001452115 benign Polyglandular autoimmune syndrome, type 1 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000710497 SCV001927244 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000116303 SCV001952048 benign not specified no assertion criteria provided clinical testing

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