Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001004174 | SCV001162991 | likely pathogenic | Rhizomelic chondrodysplasia punctata type 1 | criteria provided, single submitter | clinical testing | ||
Baylor Genetics | RCV003473544 | SCV004203896 | likely pathogenic | Peroxisome biogenesis disorder 9B | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003473544 | SCV004805376 | likely pathogenic | Peroxisome biogenesis disorder 9B | 2024-03-25 | criteria provided, single submitter | research |