Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000735004 | SCV000863191 | uncertain significance | not provided | 2018-08-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088060 | SCV001102353 | likely benign | Charcot-Marie-Tooth disease type 2 | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002397519 | SCV002705515 | likely benign | Cardiovascular phenotype | 2020-07-12 | 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. |
Color Diagnostics, |
RCV003532253 | SCV004359122 | likely benign | Cardiomyopathy | 2022-11-06 | criteria provided, single submitter | clinical testing |