Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000598039 | SCV000702615 | uncertain significance | not provided | 2016-10-07 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001294980 | SCV001483882 | likely benign | Nephronophthisis | 2023-06-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002483585 | SCV002790438 | uncertain significance | Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome | 2021-09-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004530666 | SCV004719674 | likely benign | NPHP3-related disorder | 2023-10-19 | 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). |