Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518613 | SCV000615321 | benign | not specified | 2016-09-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000528567 | SCV000629414 | benign | Spastic paraplegia | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001092435 | SCV001248948 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | SLC33A1: PP2, BS1 |
Gene |
RCV001092435 | SCV001758671 | benign | not provided | 2020-01-06 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001848699 | SCV002105207 | likely benign | Hereditary spastic paraplegia | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000518613 | SCV001956238 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001092435 | SCV001967141 | likely benign | not provided | no assertion criteria provided | clinical testing |