Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000761869 | SCV000892083 | uncertain significance | not provided | 2018-04-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088937 | SCV001011593 | likely benign | Hypertrophic cardiomyopathy | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001525348 | SCV001735418 | likely benign | Cardiomyopathy | 2020-11-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343613 | SCV002647286 | likely benign | Cardiovascular phenotype | 2022-03-03 | 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. |
Prevention |
RCV003892148 | SCV004713956 | likely benign | MYH7-related condition | 2020-08-13 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |