Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001586112 | SCV001813910 | uncertain significance | not provided | 2019-03-27 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31953843, 31168818, 31046801) |
Juno Genomics, |
RCV001289921 | SCV005418517 | likely pathogenic | Autosomal recessive congenital ichthyosis 2 | criteria provided, single submitter | clinical testing | PM2_Supporting+PM3_Strong+PP4 | |
Fulgent Genetics, |
RCV001289921 | SCV005652822 | likely pathogenic | Autosomal recessive congenital ichthyosis 2 | 2024-02-02 | criteria provided, single submitter | clinical testing | |
Institute for Human Genetics, |
RCV001289921 | SCV001477923 | pathogenic | Autosomal recessive congenital ichthyosis 2 | 2021-01-07 | no assertion criteria provided | clinical testing |