Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000132567 | SCV000227046 | uncertain significance | not provided | 2016-02-18 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001079675 | SCV001021263 | benign | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989734 | SCV001140278 | benign | Cone-rod dystrophy 6 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000132567 | SCV000172505 | probable-non-pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Likely benign. | |
Clinical Genetics, |
RCV000132567 | SCV001920694 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001725998 | SCV001968210 | benign | not specified | no assertion criteria provided | clinical testing |