Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726198 | SCV000342837 | uncertain significance | not provided | 2016-06-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000377625 | SCV000715416 | likely benign | not specified | 2017-01-25 | 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 | RCV001087891 | SCV001006835 | likely benign | Charcot-Marie-Tooth disease type 2 | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001183042 | SCV001348692 | likely benign | Cardiomyopathy | 2019-01-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379144 | SCV002694427 | likely benign | Cardiovascular phenotype | 2018-09-29 | 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. |