Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000356487 | SCV000339210 | likely benign | not specified | 2016-01-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000084834 | SCV000692891 | uncertain significance | not provided | 2021-12-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001084922 | SCV001098382 | likely benign | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000084834 | SCV002003388 | uncertain significance | not provided | 2024-06-12 | criteria provided, single submitter | clinical testing | In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Retina International | RCV000084834 | SCV000116970 | not provided | not provided | no assertion provided | not provided |