Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180103 | SCV000232477 | benign | not specified | 2014-05-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086101 | SCV001098086 | benign | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000180103 | SCV001159400 | benign | not specified | 2018-12-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000084841 | SCV001950577 | benign | not provided | 2020-11-09 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 18332321, 22995991, 20981092, 12365911) |
Fulgent Genetics, |
RCV002477249 | SCV002800068 | likely benign | Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i | 2021-12-14 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000084841 | SCV000116977 | not provided | not provided | no assertion provided | not provided |