ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1398-10dup

dbSNP: rs587780555
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080891 SCV000153974 benign Microcephaly, normal intelligence and immunodeficiency 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000759887 SCV000211431 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000504209 SCV000595909 likely benign not specified 2016-06-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000504209 SCV000889548 benign not specified 2021-08-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000759887 SCV002048023 likely benign not provided 2021-04-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000160772 SCV002536597 likely benign Hereditary cancer-predisposing syndrome 2021-07-09 criteria provided, single submitter curation
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000160772 SCV005045462 likely benign Hereditary cancer-predisposing syndrome 2024-03-14 criteria provided, single submitter clinical testing

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