ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1095+6G>A (rs1800525)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116292 SCV000303912 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000116292 SCV000335630 benign not specified 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710491 SCV000840725 benign not provided 2017-10-11 criteria provided, single submitter clinical testing
Invitae RCV001273731 SCV001720462 benign Polyglandular autoimmune syndrome, type 1 2020-11-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116292 SCV000150210 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. RCV001273731 SCV001457183 benign Polyglandular autoimmune syndrome, type 1 2020-09-16 no assertion criteria provided clinical testing

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