Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000225366 | SCV000267571 | pathogenic | Ogden syndrome | 2016-03-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000414068 | SCV000490659 | pathogenic | not provided | 2019-10-09 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate that this variant results in over 90% reduction in catalytic activity (Saunier et al., 2016); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28135719, 27094817) |
OMIM | RCV000225366 | SCV002570113 | pathogenic | Ogden syndrome | 2022-09-08 | no assertion criteria provided | literature only |