ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1750G>T (p.Asp584Tyr)

dbSNP: rs1664322968
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250595 SCV001425463 likely pathogenic Leber congenital amaurosis 8 no assertion criteria provided research
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251961 SCV001427707 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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