Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474317 | SCV000558170 | benign | Hypertrophic cardiomyopathy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621678 | SCV000736298 | likely benign | Cardiovascular phenotype | 2016-03-01 | 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. |
Color Diagnostics, |
RCV000778014 | SCV000914124 | likely benign | Cardiomyopathy | 2018-06-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001636706 | SCV001852070 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000778014 | SCV004239396 | benign | Cardiomyopathy | 2023-05-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965219 | SCV004783493 | likely benign | MYBPC3-related condition | 2020-11-23 | 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). |