Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731364 | SCV000859172 | uncertain significance | not provided | 2018-01-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002535205 | SCV003499872 | likely benign | Nephronophthisis | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965529 | SCV004778288 | likely benign | NPHP4-related condition | 2022-06-06 | 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). |