Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000313539 | SCV000361214 | likely benign | Macular degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000313539 | SCV000483052 | likely benign | Macular degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000020491 | SCV000677231 | benign | CARASIL syndrome | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001522701 | SCV001732292 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001522701 | SCV001837903 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26310622, 18164066, 23478260) |
Gene |
RCV000020491 | SCV000040931 | not provided | CARASIL syndrome | no assertion provided | literature only |