ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000722053 SCV000853231 pathogenic INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 2018-11-20 no assertion criteria provided literature only
Rappaport Faculty of Medicine,Technion-Israel Institute of Technology RCV000578475 SCV000564129 pathogenic Retinitis pigmentosa no assertion criteria provided research retinitis pigmentosa with intellectual disability

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