Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000211876 | SCV000166771 | benign | not specified | 2011-07-18 | 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. |
Illumina Laboratory Services, |
RCV000369331 | SCV000359420 | likely benign | Retinitis Pigmentosa, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000270009 | SCV000359421 | likely benign | Macular degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000325088 | SCV000359422 | likely benign | Stargardt Disease, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000385058 | SCV000359423 | likely benign | Cone-Rod Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000085528 | SCV000602334 | benign | not provided | 2022-09-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085528 | SCV001102457 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001099945 | SCV001256438 | likely benign | ABCA4-related disorder | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Retina International | RCV000085528 | SCV000117665 | not provided | not provided | no assertion provided | not provided |