Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Laboratory, |
RCV001420282 | SCV001622702 | likely pathogenic | See cases | 2021-04-26 | criteria provided, single submitter | clinical testing | PVS1_strong;PM2_supporting;PM6_moderate;PP3_supporting |