Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000309025 | SCV000359854 | likely benign | Progressive external ophthalmoplegia with mitochondrial DNA deletions | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000367436 | SCV000359855 | likely benign | Mitochondrial DNA depletion syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000275226 | SCV000359856 | likely benign | Ataxia Neuropathy Spectrum Disorders | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000313818 | SCV000359857 | likely benign | Autosomal recessive cerebellar ataxia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001753758 | SCV001985312 | likely benign | not provided | 2021-04-29 | criteria provided, single submitter | clinical testing |