Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hadassah Hebrew University Medical Center | RCV000678420 | SCV001430591 | likely pathogenic | Autosomal recessive congenital ichthyosis 5 | 2019-06-20 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000678420 | SCV001523987 | pathogenic | Autosomal recessive congenital ichthyosis 5 | 2020-01-15 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV001731881 | SCV001981890 | pathogenic | not provided | 2022-02-15 | criteria provided, single submitter | clinical testing | Published functional studies of F59L demonstrate a significant decrease of enzyme activity (Ohno et al., 2015); Not observed at a significant frequency 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: 31168818, 16436457, 31130284, 33067036, 26056268) |
Center for Genomic Medicine, |
RCV000678420 | SCV004805131 | pathogenic | Autosomal recessive congenital ichthyosis 5 | 2024-03-17 | criteria provided, single submitter | research | |
Institute for Human Genetics, |
RCV000678420 | SCV000804491 | pathogenic | Autosomal recessive congenital ichthyosis 5 | 2018-04-23 | no assertion criteria provided | clinical testing | |
Biochemical Molecular Genetic Laboratory, |
RCV000678420 | SCV001190815 | pathogenic | Autosomal recessive congenital ichthyosis 5 | 2020-02-05 | no assertion criteria provided | clinical testing |