Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078320 | SCV000110166 | benign | not specified | 2016-06-23 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000078320 | SCV000302891 | benign | not specified | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV000084902 | SCV001159043 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001518411 | SCV001727097 | benign | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000084902 | SCV001889693 | benign | not provided | 2019-01-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24066033, 27884173, 16123401, 20981092, 18055820, 15111605) |
Retina International | RCV000084902 | SCV000117038 | not provided | not provided | no assertion provided | not provided | ||
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000084902 | SCV000172508 | probable-non-pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Likely benign. |