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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507423 SCV000604435 benign not specified 2016-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000128893 SCV000172753 benign Hereditary cancer-predisposing syndrome 2014-11-20 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 RCV000128893 SCV000685753 benign Hereditary cancer-predisposing syndrome 2015-03-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350955 SCV000475287 likely benign Microcephaly, normal intelligence and immunodeficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000350955 SCV000562939 benign Microcephaly, normal intelligence and immunodeficiency 2018-01-16 criteria provided, single submitter clinical testing
PreventionGenetics RCV000507423 SCV000806427 benign not specified 2017-02-02 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
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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