ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.252C>A (p.Tyr84Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Erciyes University Faculty of Medicine RCV004691602 SCV004543762 likely pathogenic Bietti crystalline corneoretinal dystrophy 2024-02-01 no assertion criteria provided clinical testing

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