Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001784837 | SCV002018794 | pathogenic | not provided | 2020-06-30 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV002273833 | SCV002558754 | likely pathogenic | Arthrogryposis, distal, with impaired proprioception and touch | 2022-08-05 | criteria provided, single submitter | clinical testing | homozygot |