ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.-84A>G

gnomAD frequency: 0.99525  dbSNP: rs1345004
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001844156 SCV000483395 benign Hyperimmunoglobulin M syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548988 SCV001769020 benign Hyper-IgM syndrome type 2 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001683464 SCV001898851 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003488576 SCV004232911 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 100% of patients studied by a panel of primary immunodeficiencies. Number of patients: 95. Only high quality variants are reported.

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