Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001311635 | SCV001501899 | likely pathogenic | not provided | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV002226538 | SCV002505605 | pathogenic | Chromosome 1p32-p31 deletion syndrome | 2022-04-11 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PVS1, PS4_SUP, PM2_SUP |