Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001036031 | SCV001199374 | pathogenic | Exostoses, multiple, type 2 | 2019-02-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120). This variant has been observed in several individuals with multiple osteochondromas (PMID: 19309273, 24532482). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln273*) in the EXT2 gene. It is expected to result in an absent or disrupted protein product. |
Revvity Omics, |
RCV001784571 | SCV002022235 | pathogenic | not provided | 2019-07-30 | criteria provided, single submitter | clinical testing |