Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470296 | SCV000559830 | likely benign | Charcot-Marie-Tooth disease type 2 | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000517349 | SCV000614023 | likely benign | not specified | 2016-09-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001696854 | SCV000718339 | likely benign | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001180576 | SCV001345535 | likely benign | Cardiomyopathy | 2018-12-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418463 | SCV002718958 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000517349 | SCV004029933 | likely benign | not specified | 2023-07-22 | criteria provided, single submitter | clinical testing |