Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000791208 | SCV000930489 | uncertain significance | Charcot-Marie-Tooth disease type 4B3 | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001576154 | SCV001803284 | uncertain significance | not provided | 2021-11-24 | 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 |
Invitae | RCV001576154 | SCV002373977 | likely benign | not provided | 2023-11-24 | criteria provided, single submitter | clinical testing |