ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.2405G>A (p.Arg802Gln)

gnomAD frequency: 0.00036  dbSNP: rs187011794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646027 SCV000767783 benign Familial acute necrotizing encephalopathy 2023-10-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437362 SCV004148972 benign not provided 2023-01-01 criteria provided, single submitter clinical testing RANBP2: BS1, BS2

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