ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1845+10A>G

dbSNP: rs570914185
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000927165 SCV001134500 uncertain significance not provided 2019-05-21 criteria provided, single submitter clinical testing
Invitae RCV001401955 SCV001603794 likely benign Microcephaly, normal intelligence and immunodeficiency 2022-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001401955 SCV002045902 likely benign Microcephaly, normal intelligence and immunodeficiency 2021-11-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818889 SCV002065560 uncertain significance not specified 2017-12-07 criteria provided, single submitter clinical testing

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