Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000827279 | SCV000968915 | likely benign | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV002062209 | SCV002425625 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-12-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948022 | SCV004762084 | likely benign | DYNC1H1-related disorder | 2019-10-28 | 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). |