Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001457767 | SCV001661573 | likely benign | not provided | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001457767 | SCV001991202 | uncertain significance | not provided | 2019-05-31 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Prevention |
RCV003938819 | SCV004750028 | likely benign | ALOXE3-related disorder | 2022-05-17 | 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). |