ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1720T>A (p.Leu574Ile) (rs142334798)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000121614 SCV000149693 likely benign not specified 2018-03-13 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.
Invitae RCV000123208 SCV000166513 benign Microcephaly, normal intelligence and immunodeficiency 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000115784 SCV000186608 benign Hereditary cancer-predisposing syndrome 2016-06-22 criteria provided, single submitter clinical testing No disease association in appropriately sized case-control study(ies)
Genetic Services Laboratory,University of Chicago RCV000121614 SCV000595907 likely benign not specified 2018-04-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587365 SCV000601677 benign not provided 2019-06-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000121614 SCV000604437 uncertain significance not specified 2017-02-02 criteria provided, single submitter clinical testing
Color RCV000115784 SCV000690675 likely benign Hereditary cancer-predisposing syndrome 2015-01-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587365 SCV000697951 benign not provided 2016-01-11 criteria provided, single submitter clinical testing
Counsyl RCV000123208 SCV000799373 likely benign Microcephaly, normal intelligence and immunodeficiency 2018-04-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000587365 SCV000806417 likely benign not provided 2017-06-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000123208 SCV001324787 likely benign Microcephaly, normal intelligence and immunodeficiency 2017-08-14 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ITMI RCV000121614 SCV000085812 not provided not specified 2013-09-19 no assertion provided reference population

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