Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Laboratory, |
RCV001420192 | SCV001622612 | likely pathogenic | See cases | 2021-04-26 | criteria provided, single submitter | clinical testing | PM2_supporting;PM6_moderate;PP2_supporting;PP3_supporting |
Invitae | RCV003708602 | SCV004472843 | benign | not provided | 2024-01-03 | criteria provided, single submitter | clinical testing |