ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter)

dbSNP: rs1570382663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466581 SCV002761361 likely pathogenic Cone-rod dystrophy 3 2021-01-20 criteria provided, single submitter clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787488 SCV000926454 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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