Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041319 | SCV000065012 | likely benign | not specified | 2009-12-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697065 | SCV000535812 | likely benign | not provided | 2019-06-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000874140 | SCV001016271 | likely benign | Charcot-Marie-Tooth disease type 2 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001181344 | SCV001346470 | likely benign | Cardiomyopathy | 2018-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390178 | SCV002707314 | likely benign | Cardiovascular phenotype | 2019-11-01 | 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. |