ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.995+109A>G

gnomAD frequency: 0.49492  dbSNP: rs1078480
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543297 SCV001761839 benign Polyglandular autoimmune syndrome, type 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001713119 SCV001944340 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487462 SCV004233817 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 69% of patients studied by a panel of primary immunodeficiencies. Number of patients: 61. Only high quality variants are reported.

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