ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.695del (p.Pro232fs)

dbSNP: rs786205630
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171490 SCV000221689 likely pathogenic not provided criteria provided, single submitter research
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250589 SCV001425456 pathogenic Leber congenital amaurosis 7 no assertion criteria provided research
Faculty of Health Sciences, Beirut Arab University RCV001257855 SCV001434622 pathogenic Autosomal dominant retinitis pigmentosa 2015-09-10 no assertion criteria provided literature only

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