ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.9369+4G>A

gnomAD frequency: 0.00108  dbSNP: rs139387463
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430083 SCV000523271 likely benign not specified 2018-03-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000527967 SCV000646863 likely benign Familial acute necrotizing encephalopathy 2024-11-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001727722 SCV004148997 benign not provided 2023-12-01 criteria provided, single submitter clinical testing RANBP2: BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000430083 SCV001932529 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727722 SCV001972454 likely benign not provided no assertion criteria provided clinical testing

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