ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.37+5G>A (rs116735828)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129181 SCV000183916 benign Hereditary cancer-predisposing syndrome 2014-12-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color RCV000129181 SCV000685778 benign Hereditary cancer-predisposing syndrome 2015-04-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000389618 SCV000332541 benign not specified 2015-06-30 criteria provided, single submitter clinical testing
Invitae RCV000206525 SCV000262314 benign Microcephaly, normal intelligence and immunodeficiency 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000389618 SCV000806437 benign not specified 2017-01-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000389618 SCV000601690 likely benign not specified 2017-02-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759176 SCV000888338 likely benign not provided 2017-08-16 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000129181 SCV000788079 likely benign Hereditary cancer-predisposing syndrome 2018-01-05 no assertion criteria provided clinical testing

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