Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001429073 | SCV001631783 | likely benign | Nephronophthisis | 2023-08-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495591 | SCV002801065 | likely benign | Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome | 2021-12-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004533717 | SCV004749743 | likely benign | NPHP3-related disorder | 2021-07-02 | 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). |