Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001220284 | SCV001392264 | pathogenic | not provided | 2021-07-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PHEX are known to be pathogenic (PMID: 9097956, 9106524, 19219621). This variant has been observed in an individual affected with X-linked hypophosphatemia (PMID: 14564077). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp368*) in the PHEX gene. It is expected to result in an absent or disrupted protein product. |
Pediatric Department, |
RCV004761994 | SCV004809198 | pathogenic | Familial X-linked hypophosphatemic vitamin D refractory rickets | no assertion criteria provided | research |