Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV000148990 | SCV004806807 | likely pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 2024-03-26 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000148990 | SCV000196038 | pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 2014-11-01 | no assertion criteria provided | literature only | |
Biochemical Molecular Genetic Laboratory, |
RCV000148990 | SCV001469247 | pathogenic | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 2020-10-11 | no assertion criteria provided | clinical testing |