ClinVar Miner

Submissions for variant NM_020843.3(SCAPER):c.1859_1861del (p.Glu620del) (rs1395475624)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics,Fundacion Jimenez Diaz University Hospital RCV000520792 SCV000579335 likely pathogenic Rod-cone dystrophy; Intellectual disability, moderate 2017-06-05 no assertion criteria provided research
OMIM RCV000722055 SCV000853233 pathogenic Intellectual developmental disorder and retinitis pigmentosa; IDDRP 2018-11-20 no assertion criteria provided literature only

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