Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000292531 | SCV000484274 | likely benign | Woolly hair-skin fragility syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000349784 | SCV000484275 | likely benign | Epidermolysis bullosa simplex due to plakophilin deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000391277 | SCV000484276 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000282042 | SCV000484277 | likely benign | Lethal acantholytic epidermolysis bullosa | 2016-06-14 | criteria provided, single submitter | clinical testing |