ClinVar Miner

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

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Total submissions: 10
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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 General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000988092 SCV000262314 benign Microcephaly, normal intelligence and immunodeficiency 2019-12-31 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
Color RCV000129181 SCV000685778 benign Hereditary cancer-predisposing syndrome 2015-04-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000389618 SCV000806437 benign not specified 2017-01-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759176 SCV000888338 benign not provided 2018-08-27 criteria provided, single submitter clinical testing
Mendelics RCV000988092 SCV001137672 benign Microcephaly, normal intelligence and immunodeficiency 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000389618 SCV001157388 benign not specified 2018-07-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000988092 SCV001327165 benign Microcephaly, normal intelligence and immunodeficiency 2017-05-01 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
True Health Diagnostics RCV000129181 SCV000788079 likely benign Hereditary cancer-predisposing syndrome 2018-01-05 no assertion criteria provided clinical testing

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