ClinVar Miner

Submissions for variant NM_020843.4(SCAPER):c.2023-2A>G (rs1555558169)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rappaport Faculty of Medicine,Technion-Israel Institute of Technology RCV000578475 SCV000564129 pathogenic Retinitis pigmentosa no assertion criteria provided research retinitis pigmentosa with intellectual disability
OMIM RCV000722053 SCV000853231 pathogenic Intellectual developmental disorder and retinitis pigmentosa; IDDRP 2018-11-20 no assertion criteria provided literature only
Section for Clinical Neurogenetics,University of Tübingen RCV000722053 SCV001156102 pathogenic Intellectual developmental disorder and retinitis pigmentosa; IDDRP 2019-08-01 no assertion criteria provided research
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003221 SCV001161299 pathogenic Syndromic retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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