Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000919775 | SCV001065129 | likely benign | Generalized epilepsy-paroxysmal dyskinesia syndrome | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001702572 | SCV004033057 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | KCNMA1: BP4, BP7 |
Genome Diagnostics Laboratory, |
RCV001702572 | SCV001927146 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001702572 | SCV001963686 | likely benign | not provided | no assertion criteria provided | clinical testing |