Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597538 | SCV000702606 | uncertain significance | not provided | 2018-04-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084148 | SCV001000691 | benign | Nephronophthisis | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925774 | SCV004739348 | likely benign | NPHP4-related condition | 2021-09-14 | 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). |