Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728977 | SCV000856607 | uncertain significance | not provided | 2017-08-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083778 | SCV001131966 | likely benign | Nephronophthisis | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003947915 | SCV004758630 | likely benign | NPHP4-related condition | 2021-12-01 | 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). |