ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.1134T>G (p.Tyr378Ter)

dbSNP: rs1844615558
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074293 SCV001239866 likely pathogenic Retinal dystrophy 2019-06-18 criteria provided, single submitter clinical testing

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