Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biomedical Innovation Departament, |
RCV001352782 | SCV001547412 | pathogenic | Epidermolysis bullosa simplex | 2009-05-15 | criteria provided, single submitter | research | |
Gene |
RCV000056548 | SCV004035589 | likely pathogenic | not provided | 2023-09-13 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (gnomAD); 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: 17039244, 25017986) |
Epithelial Biology; Institute of Medical Biology, |
RCV000056548 | SCV000087659 | not provided | not provided | no assertion provided | not provided |