Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153583 | SCV000203121 | uncertain significance | not provided | 2017-07-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087673 | SCV000253532 | likely benign | Nephronophthisis | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952751 | SCV004784554 | likely benign | NPHP4-related condition | 2019-10-15 | 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). |