ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1095+78del

dbSNP: rs5844181
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990356 SCV001141304 benign Polyglandular autoimmune syndrome, type 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001709701 SCV001938594 benign not provided 2021-05-27 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003489993 SCV004233008 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 84% of patients studied by a panel of primary immunodeficiencies. Number of patients: 80. Only high quality variants are reported.

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