Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000434819 | SCV000532583 | likely benign | not specified | 2016-10-12 | 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. |
Invitae | RCV000542009 | SCV000657799 | likely benign | Charcot-Marie-Tooth disease type 2 | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001179845 | SCV001344633 | likely benign | Cardiomyopathy | 2019-04-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379365 | SCV002689708 | likely benign | Cardiovascular phenotype | 2019-07-11 | 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. |