ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.1632-16T>C

gnomAD frequency: 0.00948  dbSNP: rs147266881
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438656 SCV000522376 benign not provided 2018-03-29 criteria provided, single submitter clinical testing
Invitae RCV001512809 SCV001720284 benign Familial acute necrotizing encephalopathy 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001512809 SCV002796437 likely benign Familial acute necrotizing encephalopathy 2022-01-17 criteria provided, single submitter clinical testing

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