ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.2071-30A>T

gnomAD frequency: 0.32860  dbSNP: rs3736639
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248307 SCV000309101 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001532829 SCV001748573 benign Microcephaly, normal intelligence and immunodeficiency 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001610628 SCV001833363 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 RCV002225563 SCV002505277 benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316396 SCV004016034 benign Acute lymphoid leukemia 2023-07-07 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000248307 SCV004233204 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 63% of patients studied by a panel of primary immunodeficiencies. Number of patients: 60. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001610628 SCV005271444 benign not provided criteria provided, single submitter not provided

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