Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002514868 | SCV003503234 | likely benign | Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Deafness Gene Diagnosis, |
RCV000149863 | SCV000196717 | likely pathogenic | Deafness, X-linked 5 | no assertion criteria provided | clinical testing |