ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.5941T>A (p.Ser1981Thr)

gnomAD frequency: 0.00849  dbSNP: rs61748150
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428797 SCV000518794 benign not specified 2016-10-11 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 RCV000533259 SCV000646826 benign Familial acute necrotizing encephalopathy 2023-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437172 SCV004148985 benign not provided 2024-01-01 criteria provided, single submitter clinical testing RANBP2: BP4, BS1, BS2

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