ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.5570A>G (p.Gln1857Arg)

dbSNP: rs2149279328
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774257 SCV002002067 uncertain significance not provided 2020-06-25 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002477978 SCV002777723 uncertain significance Familial acute necrotizing encephalopathy 2022-02-18 criteria provided, single submitter clinical testing

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