ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.553G>C (p.Glu185Gln) (rs1805794)

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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 RCV000162358 SCV000212661 benign Hereditary cancer-predisposing syndrome 2014-11-21 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121620 SCV000231034 benign not specified 2015-03-30 criteria provided, single submitter clinical testing
Color RCV000162358 SCV000292083 benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121620 SCV000309102 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374656 SCV000475299 benign Microcephaly, normal intelligence and immunodeficiency 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000121620 SCV000539866 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, variant associated with lung cancer
IntelligeneCG RCV000374656 SCV000611719 benign Microcephaly, normal intelligence and immunodeficiency 2017-08-18 criteria provided, single submitter clinical testing
Invitae RCV000857343 SCV000634318 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000121620 SCV001158777 benign not specified 2018-07-02 criteria provided, single submitter clinical testing
ITMI RCV000121620 SCV000085818 not provided not specified 2013-09-19 no assertion provided reference population

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