Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000081350 | SCV000311353 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000304729 | SCV000448216 | likely benign | Cone-Rod Dystrophy, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000359498 | SCV000448217 | likely benign | Stargardt Disease, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000264787 | SCV000448218 | likely benign | Retinitis Pigmentosa, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000310545 | SCV000448219 | likely benign | Macular dystrophy, retinal | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000836759 | SCV000978605 | benign | not provided | 2018-06-07 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000836759 | SCV001726626 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000081350 | SCV000113281 | benign | not specified | 2013-08-14 | no assertion criteria provided | clinical testing |