Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001086418 | SCV000544714 | likely benign | Spastic paraplegia | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000470392 | SCV001149250 | uncertain significance | not provided | 2017-02-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001848800 | SCV002106038 | uncertain significance | Hereditary spastic paraplegia | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000470392 | SCV004031833 | uncertain significance | not provided | 2023-08-31 | criteria provided, single submitter | clinical testing | In-frame deletion of 2 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |