ClinVar Miner

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

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000121614 SCV000604437 uncertain significance not specified 2017-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000115784 SCV000186608 benign Hereditary cancer-predisposing syndrome 2016-06-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: No disease association in appropriately sized case-control study(ies)
Color RCV000115784 SCV000690675 likely benign Hereditary cancer-predisposing syndrome 2015-01-02 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
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.
Genetic Services Laboratory, University of Chicago RCV000121614 SCV000595907 uncertain significance not specified 2017-06-13 criteria provided, single submitter clinical testing
ITMI RCV000121614 SCV000085812 not provided not specified 2013-09-19 no assertion provided reference population
Integrated Genetics/Laboratory Corporation of America RCV000587365 SCV000697951 benign not provided 2016-01-11 criteria provided, single submitter clinical testing
Invitae RCV000123208 SCV000166513 likely benign Microcephaly, normal intelligence and immunodeficiency 2018-01-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000587365 SCV000806417 likely benign not provided 2017-06-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000121614 SCV000601677 uncertain significance not specified 2017-05-20 criteria provided, single submitter clinical testing

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