ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.3592C>T (p.Arg1198Cys)

dbSNP: rs771155432
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001298386 SCV001487441 uncertain significance Familial acute necrotizing encephalopathy 2021-09-02 criteria provided, single submitter clinical testing
GeneDx RCV001751570 SCV001985232 uncertain significance not provided 2020-11-12 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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