ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.7172C>G (p.Thr2391Ser)

gnomAD frequency: 0.00117  dbSNP: rs2433786
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529003 SCV000646837 benign Familial acute necrotizing encephalopathy 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573674 SCV004148989 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing RANBP2: BP4, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573674 SCV001799901 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573674 SCV001932367 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573674 SCV001975424 likely benign not provided no assertion criteria provided clinical testing

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