Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001451052 | SCV001654671 | likely benign | Nephronophthisis | 2023-09-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002500799 | SCV002807136 | likely benign | Nephronophthisis 4; Senior-Loken syndrome 4 | 2021-09-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003897560 | SCV004715275 | likely benign | NPHP4-related condition | 2022-12-07 | criteria provided, single submitter | 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). |