Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002496507 | SCV002810452 | pathogenic | Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome; Carpal tunnel syndrome 2 | 2021-10-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000033886 | SCV000057794 | not provided | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | no assertion provided | literature only | ||
Gene |
RCV002054552 | SCV000086689 | not provided | Multiple epiphyseal dysplasia | no assertion provided | literature only |