ClinVar Miner

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

gnomAD frequency: 0.10544  dbSNP: rs1800525
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116292 SCV000303912 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000116292 SCV000335630 benign not specified 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710491 SCV000840725 benign not provided 2017-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001273731 SCV001720462 benign Polyglandular autoimmune syndrome, type 1 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001273731 SCV001761840 benign Polyglandular autoimmune syndrome, type 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000710491 SCV001884122 benign not provided 2018-12-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19863576, 25402387, 23262341)
Breakthrough Genomics, Breakthrough Genomics RCV000710491 SCV005278154 benign not provided criteria provided, single submitter not provided
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
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000116292 SCV001926906 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000116292 SCV001953763 benign not specified no assertion criteria provided clinical testing

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