ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1489A>G (p.Thr497Ala) (rs3026268)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079822 SCV000166511 benign Microcephaly, normal intelligence and immunodeficiency 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000121612 SCV000170640 benign not specified 2014-01-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000128985 SCV000172874 benign Hereditary cancer-predisposing syndrome 2014-11-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121612 SCV000309098 benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000121612 SCV000595908 benign not specified 2018-01-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000121612 SCV000601674 likely benign not specified 2017-01-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000121612 SCV000604436 benign not specified 2016-07-26 criteria provided, single submitter clinical testing
Color RCV000128985 SCV000685725 benign Hereditary cancer-predisposing syndrome 2015-02-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759168 SCV000888325 benign not provided 2018-02-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001079822 SCV001327035 benign Microcephaly, normal intelligence and immunodeficiency 2017-04-28 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ITMI RCV000121612 SCV000085810 not provided not specified 2013-09-19 no assertion provided reference population
True Health Diagnostics RCV000128985 SCV000788076 likely benign Hereditary cancer-predisposing syndrome 2017-08-17 no assertion criteria provided clinical testing

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