Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000242644 | SCV000315233 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000353208 | SCV000445037 | benign | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000260731 | SCV000445038 | benign | Aicardi Goutieres syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000537156 | SCV000644196 | benign | Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV001795465 | SCV002036820 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000242644 | SCV002038502 | benign | not specified | no assertion criteria provided | clinical testing |