ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1089C>T (p.Tyr363=) (rs121908974)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212742 SCV000211429 benign not specified 2014-10-06 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 RCV000160770 SCV000214231 likely benign Hereditary cancer-predisposing syndrome 2015-06-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724700 SCV000233058 uncertain significance not provided 2015-04-10 criteria provided, single submitter clinical testing
Invitae RCV000724700 SCV000253384 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000212742 SCV000309095 likely benign not specified criteria provided, single submitter clinical testing
Color RCV000160770 SCV000685692 likely benign Hereditary cancer-predisposing syndrome 2015-04-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000212742 SCV000917848 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing

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