Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000865869 | SCV001006895 | likely benign | Hypertrophic cardiomyopathy | 2023-09-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001176573 | SCV001340596 | likely benign | Cardiomyopathy | 2018-12-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002427128 | SCV002730632 | likely benign | Cardiovascular phenotype | 2020-07-31 | 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 |
RCV003965701 | SCV004782165 | likely benign | MYH7-related condition | 2020-04-08 | 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). |