Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000710047 | SCV000840425 | pathogenic | Leber congenital amaurosis | 2018-04-13 | criteria provided, single submitter | clinical testing | This variant was identified in combination with another variant in the same gene (compound heterozygosity) in patient with Leber congenital amaurosis. |
Molecular Genetics Laboratory, |
RCV000754600 | SCV000845194 | pathogenic | Leber congenital amaurosis 6 | 2018-08-21 | criteria provided, single submitter | research | |
Fulgent Genetics, |
RCV000762921 | SCV000893339 | pathogenic | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2018-10-31 | criteria provided, single submitter | clinical testing |