Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002064820 | SCV002459385 | likely benign | Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004530838 | SCV004744160 | likely benign | ADAR-related disorder | 2019-10-28 | 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). |