ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.2082T>G (p.Pro694=) (rs7823648)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000128893 SCV000172753 benign Hereditary cancer-predisposing syndrome 2014-11-20 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
Illumina Clinical Services Laboratory,Illumina RCV000350955 SCV000475287 benign Microcephaly, normal intelligence and immunodeficiency 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000350955 SCV000562939 benign Microcephaly, normal intelligence and immunodeficiency 2019-12-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507423 SCV000601683 benign not specified 2016-07-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507423 SCV000604435 benign not specified 2018-09-25 criteria provided, single submitter clinical testing
Color RCV000128893 SCV000685753 benign Hereditary cancer-predisposing syndrome 2015-03-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000507423 SCV000806427 benign not specified 2017-02-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759172 SCV000888333 benign not provided 2016-07-06 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000128893 SCV000788077 likely benign Hereditary cancer-predisposing syndrome 2017-09-11 no assertion criteria provided clinical testing

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