ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.7670A>G (p.Asn2557Ser)

gnomAD frequency: 0.00194  dbSNP: rs145613015
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646030 SCV000767786 benign Familial acute necrotizing encephalopathy 2023-08-11 criteria provided, single submitter clinical testing

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