ClinVar Miner

Submissions for variant NM_006269.2(RP1):c.1451C>A (p.Ser484Ter)

dbSNP: rs1563329888
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000678609 SCV000804695 pathogenic Retinitis pigmentosa 1 2016-09-01 no assertion criteria provided clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787688 SCV000926680 likely pathogenic Retinal dystrophy 2018-04-01 no assertion criteria provided research

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