Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000379083 | SCV000345986 | uncertain significance | not provided | 2016-09-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001409426 | SCV001611445 | likely benign | Nephronophthisis | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003967811 | SCV004778380 | likely benign | NPHP4-related condition | 2022-08-25 | 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). |