ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.6282C>T (p.Asn2094=)

gnomAD frequency: 0.00002  dbSNP: rs759465379
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001427209 SCV001629883 likely benign Familial acute necrotizing encephalopathy 2020-04-24 criteria provided, single submitter clinical testing

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