ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1398-19C>T

gnomAD frequency: 0.00157  dbSNP: rs201495716
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160771 SCV000211430 benign not specified 2014-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001514409 SCV001722241 benign Microcephaly, normal intelligence and immunodeficiency 2025-01-23 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002225464 SCV002505289 likely benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315964 SCV004016060 benign Acute lymphoid leukemia 2023-07-07 criteria provided, single submitter clinical testing

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