ClinVar Miner

Submissions for variant NM_006060.6(IKZF1):c.161-8198A>G

gnomAD frequency: 0.76615  dbSNP: rs10899750
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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 RCV001730170 SCV001977260 benign Pancytopenia due to IKZF1 mutations 2021-08-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003401661 SCV004102610 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 88% of patients studied by a panel of primary immunodeficiencies. Number of patients: 84. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV004713088 SCV005265156 benign not provided criteria provided, single submitter not provided

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