ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.38-10T>A (rs556807466)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000127085 SCV000685779 likely benign Hereditary cancer-predisposing syndrome 2015-07-23 criteria provided, single submitter clinical testing
Counsyl RCV000200594 SCV000790547 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2017-03-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733762 SCV000861859 uncertain significance not provided 2018-06-21 criteria provided, single submitter clinical testing
GeneDx RCV000212725 SCV000170638 benign not specified 2014-02-06 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.
Invitae RCV000200594 SCV000253389 likely benign Microcephaly, normal intelligence and immunodeficiency 2017-12-27 criteria provided, single submitter clinical testing
Mendelics RCV000200594 SCV000838324 uncertain significance Microcephaly, normal intelligence and immunodeficiency 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212725 SCV000601691 likely benign not specified 2017-01-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000733762 SCV000888339 likely benign not provided 2017-01-02 criteria provided, single submitter clinical testing
Vantari Genetics RCV000127085 SCV000267063 likely benign Hereditary cancer-predisposing syndrome 2015-11-17 criteria provided, single submitter clinical testing

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