ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.2340G>A (p.Pro780=)

gnomAD frequency: 0.00019  dbSNP: rs2912839
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001424238 SCV001626831 likely benign Familial acute necrotizing encephalopathy 2018-12-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432956 SCV004148971 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing RANBP2: BP4, BP7

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