Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728647 | SCV000856247 | uncertain significance | not provided | 2017-08-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078850 | SCV001010096 | likely benign | Nephronophthisis | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965507 | SCV004777530 | likely benign | NPHP4-related condition | 2021-10-05 | 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). |