Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729265 | SCV000856912 | uncertain significance | not provided | 2018-07-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001513291 | SCV001720884 | benign | Nephronophthisis | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000729265 | SCV004155569 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | NPHP3: BP4, BP7 |
Prevention |
RCV004540043 | SCV004786140 | likely benign | NPHP3-related disorder | 2023-05-08 | 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). |