Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001711644 | SCV000292608 | likely benign | not provided | 2020-03-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001000652 | SCV001020785 | likely benign | Majeed syndrome | 2024-01-07 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001000652 | SCV001157678 | likely benign | Majeed syndrome | 2021-08-17 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002262852 | SCV002543571 | uncertain significance | Autoinflammatory syndrome | 2020-10-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001711644 | SCV004144744 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | LPIN2: BP4, BP7 |