Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ai |
RCV002223755 | SCV002502085 | likely pathogenic | not provided | 2021-07-18 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003989283 | SCV004805957 | pathogenic | Multiple epiphyseal dysplasia type 1 | 2024-03-25 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000009772 | SCV000029993 | pathogenic | Pseudoachondroplasia, severe | 2001-11-22 | no assertion criteria provided | literature only | |
Gene |
RCV000033890 | SCV000057798 | not provided | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | no assertion provided | literature only |