ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.1209C>T (p.Ser403=)

gnomAD frequency: 0.00951  dbSNP: rs140275032
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703706 SCV000522375 benign not provided 2018-03-29 criteria provided, single submitter clinical testing
Invitae RCV000529607 SCV000646766 benign Familial acute necrotizing encephalopathy 2023-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000529607 SCV002807828 likely benign Familial acute necrotizing encephalopathy 2022-01-17 criteria provided, single submitter clinical testing

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