ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.896+10dup

dbSNP: rs763938484
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480951 SCV000569867 likely benign not specified 2017-05-04 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.
Genetic Services Laboratory, University of Chicago RCV000480951 SCV002067974 likely benign not specified 2020-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056786 SCV002422628 likely benign Microcephaly, normal intelligence and immunodeficiency 2024-12-09 criteria provided, single submitter clinical testing

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