Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001049085 | SCV001213119 | pathogenic | not provided | 2019-12-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CYP4V2 are known to be pathogenic (PMID: 15042513, 25118264). This variant has not been reported in the literature in individuals with CYP4V2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu59Argfs*7) in the CYP4V2 gene. It is expected to result in an absent or disrupted protein product. |
Fulgent Genetics, |
RCV002481945 | SCV002793982 | likely pathogenic | Bietti crystalline corneoretinal dystrophy | 2021-09-24 | criteria provided, single submitter | clinical testing |