Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV000492061 | SCV001430057 | pathogenic | Axial spondylometaphyseal dysplasia | 2019-09-09 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000492061 | SCV005016572 | likely pathogenic | Axial spondylometaphyseal dysplasia | 2024-03-14 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000492061 | SCV000580659 | pathogenic | Axial spondylometaphyseal dysplasia | 2018-07-17 | no assertion criteria provided | literature only |