Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000493608 | SCV000582954 | uncertain significance | not provided | 2019-11-25 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV001408140 | SCV001610129 | likely benign | Nephronophthisis | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535553 | SCV004735353 | likely benign | NPHP1-related disorder | 2022-10-23 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |