Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087173 | SCV001091436 | likely benign | Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000945424 | SCV001149222 | uncertain significance | not provided | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000945424 | SCV001813594 | likely benign | not provided | 2022-08-04 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Genome Diagnostics Laboratory, |
RCV000945424 | SCV002034280 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000945424 | SCV002038221 | likely benign | not provided | no assertion criteria provided | clinical testing |