ClinVar Miner

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

gnomAD frequency: 0.00061  dbSNP: rs140280672
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Total submissions: 9
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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 Familial acute necrotizing encephalopathy 2022-11-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000445589 SCV002809643 likely benign Familial acute necrotizing encephalopathy 2022-04-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001529783 SCV004148991 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing RANBP2: BP4, BS2
Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals RCV000445589 SCV000537213 likely pathogenic Familial acute necrotizing encephalopathy 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
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529783 SCV001930143 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529783 SCV001963849 likely benign not provided no assertion criteria provided clinical testing

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