ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.6609G>A (p.Ala2203=)

gnomAD frequency: 0.04502  dbSNP: rs60199637
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431568 SCV000517830 benign not specified 2016-01-28 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 RCV000535955 SCV000646832 benign Familial acute necrotizing encephalopathy 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000535955 SCV002808899 likely benign Familial acute necrotizing encephalopathy 2022-04-05 criteria provided, single submitter clinical testing

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