Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000631281 | SCV000752309 | pathogenic | Chuvash polycythemia; Von Hippel-Lindau syndrome | 2021-06-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been reported in two individuals affected with von Hippel-Lindau disease (PMID: 9829912). ClinVar contains an entry for this variant (Variation ID: 223207). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu140Glnfs*3) in the VHL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VHL are known to be pathogenic (PMID: 8956040, 12202531). |
Genomic Diagnostic Laboratory, |
RCV000208805 | SCV000264733 | pathogenic | Von Hippel-Lindau syndrome | 2016-02-26 | no assertion criteria provided | clinical testing |