Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000393415 | SCV000336938 | likely pathogenic | not provided | 2015-11-06 | criteria provided, single submitter | clinical testing | |
Laboratory of Inherited Metabolic Diseases, |
RCV001787094 | SCV002029093 | pathogenic | Spondyloepiphyseal dysplasia congenita | 2017-10-25 | criteria provided, single submitter | clinical testing |