ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.1123del (p.Asp374_Leu375insTer) (rs1579976512)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003004 SCV001161058 pathogenic Bietti crystalline corneoretinal dystrophy 2019-06-23 no assertion criteria provided research

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