Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989379 | SCV001139684 | pathogenic | Progressive sclerosing poliodystrophy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000992691 | SCV001145169 | uncertain significance | not provided | 2018-11-20 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics Munich, |
RCV002468611 | SCV002764838 | likely pathogenic | Mitochondrial DNA depletion syndrome 4b | 2022-07-28 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000989379 | SCV005056572 | pathogenic | Progressive sclerosing poliodystrophy | 2024-02-16 | criteria provided, single submitter | clinical testing |