Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594676 | SCV000702232 | uncertain significance | not provided | 2017-12-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001436666 | SCV001639509 | likely benign | Nephronophthisis | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900312 | SCV004715020 | likely benign | NPHP3-related condition | 2021-04-14 | 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). |