Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002255120 | SCV002526627 | likely pathogenic | not provided | 2021-12-16 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate this variant results in significantly decreased enzymatic activity (Schaaf et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25525159, 25122065, 24095826, 21671375) |
OMIM | RCV000023541 | SCV000044832 | pathogenic | Desmosterolosis | 2011-07-01 | no assertion criteria provided | literature only |