Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001268455 | SCV001447400 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV003232279 | SCV003929495 | likely pathogenic | See cases | 2023-03-14 | criteria provided, single submitter | clinical testing | ACMG categories: PVS1,PM2 |