Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001435595 | SCV001638421 | likely benign | Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003405662 | SCV004124868 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | ADAR: BP4, BP7 |
Prevention |
RCV004734187 | SCV005366291 | likely benign | ADAR-related disorder | 2021-02-23 | no assertion criteria provided | 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). |