Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000625912 | SCV000746495 | likely pathogenic | Encephalopathy, progressive, with amyotrophy and optic atrophy | 2017-12-03 | criteria provided, single submitter | clinical testing |