Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731877 | SCV000859740 | pathogenic | not provided | 2018-02-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000796841 | SCV000936370 | pathogenic | Nephronophthisis | 2020-09-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu453*) in the NPHP4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NPHP4-related disease. Loss-of-function variants in NPHP4 are known to be pathogenic (PMID: 23559409). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV002485904 | SCV002791405 | likely pathogenic | Nephronophthisis 4; Senior-Loken syndrome 4 | 2021-12-16 | criteria provided, single submitter | clinical testing |