Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000538119 | SCV000657836 | likely benign | Charcot-Marie-Tooth disease type 4 | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001527868 | SCV001739011 | likely benign | not provided | 2021-04-20 | criteria provided, single submitter | clinical testing | In-frame duplication of 10 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002420530 | SCV002726515 | likely benign | Inborn genetic diseases | 2019-11-15 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Natera, |
RCV001829601 | SCV002085012 | likely benign | Charcot-Marie-Tooth disease type 4D | 2021-07-29 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004755975 | SCV005358170 | likely benign | NDRG1-related disorder | 2024-08-05 | 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). |