Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Laboratory, |
RCV001420327 | SCV001622747 | likely pathogenic | See cases | 2021-04-26 | criteria provided, single submitter | clinical testing | PM1_moderate;PM2_supporting;PM5_moderate;PM6_moderate;PP2_supporting;PP3_supporting |
Mendelics | RCV002246382 | SCV002519591 | pathogenic | DYRK1A-related intellectual disability syndrome | 2022-05-04 | criteria provided, single submitter | clinical testing |