Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000378188 | SCV000474718 | uncertain significance | Spastic Paraplegia, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000290793 | SCV000474719 | uncertain significance | Congenital bile acid synthesis defect | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000860845 | SCV001001010 | benign | Spastic paraplegia | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001848721 | SCV002104546 | likely benign | Hereditary spastic paraplegia | 2020-12-29 | criteria provided, single submitter | clinical testing |