ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) (rs74203920)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116295 SCV000303914 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514017 SCV000609534 likely benign not provided 2017-04-18 criteria provided, single submitter clinical testing
Invitae RCV000526170 SCV000629949 benign Polyglandular autoimmune syndrome, type 1 2017-08-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116295 SCV000150213 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.

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