Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000376763 | SCV000333079 | likely benign | not specified | 2017-12-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000861496 | SCV001001829 | likely benign | Nephronophthisis | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001556428 | SCV001778009 | likely benign | not provided | 2020-05-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003909919 | SCV004726603 | likely benign | NPHP3-related condition | 2021-03-16 | 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). |