Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679978 | SCV000807412 | pathogenic | Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | 2017-09-01 | criteria provided, single submitter | clinical testing | This splice site mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory in trans with another deleterious mutation in a 2-year-old female with ichthyosis, global delays, retinal dystrophy, cortical blindness, scoliosis, abnormal EEG, laryngomalacia. |
Gene |
RCV003324785 | SCV004031038 | likely pathogenic | not provided | 2023-08-24 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |