Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174840 | SCV000226217 | uncertain significance | not provided | 2015-04-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002056924 | SCV002436467 | likely benign | Autosomal dominant polycystic kidney disease | 2023-07-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975278 | SCV004799223 | likely benign | PKD2-related disorder | 2023-08-30 | 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). |