ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.896+36G>A

gnomAD frequency: 0.03920  dbSNP: rs1805826
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001644267 SCV001858617 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225886 SCV002505300 likely benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487589 SCV004232830 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 22% of patients studied by a panel of primary immunodeficiencies. Number of patients: 21. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001644267 SCV005221704 likely benign not provided criteria provided, single submitter not provided

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