Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Seattle Children's Hospital Molecular Genetics Laboratory, |
RCV002221234 | SCV002498594 | pathogenic | Juvenile nasopharyngeal angiofibroma | 2021-07-30 | criteria provided, single submitter | clinical testing | This variant was identified in 23% of reads, consistent with somatic origin. To our knowledge, this variant has not previously been reported in juvenile nasopharyngeal angiofibroma (JNA), but this is an oncogenic variant found in multiple tumor types (COSMIC and cBioPortal Databases). |