Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726528 | SCV000345256 | uncertain significance | not provided | 2017-11-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001083806 | SCV000559833 | likely benign | Charcot-Marie-Tooth disease type 2 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726528 | SCV000714396 | likely benign | not provided | 2021-02-26 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001172637 | SCV001335700 | likely benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Color Diagnostics, |
RCV001177599 | SCV001341836 | likely benign | Cardiomyopathy | 2018-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379154 | SCV002694671 | likely benign | Cardiovascular phenotype | 2019-05-16 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |