Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001088920 | SCV000287888 | likely benign | Dystonic disorder | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000732128 | SCV000860037 | uncertain significance | not provided | 2018-03-21 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000785106 | SCV000923665 | uncertain significance | not specified | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000732128 | SCV001714595 | uncertain significance | not provided | 2023-02-15 | criteria provided, single submitter | clinical testing | PP3 |
Gene |
RCV000732128 | SCV002013042 | uncertain significance | not provided | 2019-12-17 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |