ClinVar Miner

Submissions for variant NM_002485.5(NBN):c.1846-11_1846-7del

dbSNP: rs1060504925
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001088838 SCV000562936 likely benign Microcephaly, normal intelligence and immunodeficiency 2024-10-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000595480 SCV000704468 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775765 SCV000910204 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003899994 SCV004717389 likely benign NBN-related disorder 2020-10-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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