Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698173 | SCV000527429 | benign | not provided | 2019-05-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000461407 | SCV000559760 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313092 | SCV000849084 | likely benign | Inborn genetic diseases | 2017-03-22 | 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. |
Molecular Genetics Laboratory, |
RCV001174014 | SCV001337134 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Genetic Services Laboratory, |
RCV001821188 | SCV002069336 | likely benign | not specified | 2019-08-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001698173 | SCV005074468 | likely benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | DYNC1H1: BP4, BP7 |
Prevention |
RCV003942398 | SCV004763401 | likely benign | DYNC1H1-related disorder | 2022-06-28 | 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). |