Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Seattle Children's Hospital Molecular Genetics Laboratory, |
RCV002254478 | SCV002525679 | likely pathogenic | not provided | 2021-07-30 | criteria provided, single submitter | clinical testing | This variant is not reported in the medical literature, control population database (gnomAD v2.1.1) nor in ClinVar or cancer databases (COSMIC, cBioPortal). |