ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile) (rs140280672)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419020 SCV000518776 likely benign not specified 2016-02-10 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 RCV000445589 SCV000646844 benign Encephalopathy, acute, infection-induced, 3, suceptibility to 2020-11-26 criteria provided, single submitter clinical testing
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals RCV000445589 SCV000537213 likely pathogenic Encephalopathy, acute, infection-induced, 3, suceptibility to 2016-10-28 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529783 SCV001743853 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001529783 SCV001800115 likely benign not provided no assertion criteria provided clinical testing

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