Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035796 | SCV000059447 | likely benign | not specified | 2008-03-01 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000724206 | SCV000227754 | uncertain significance | not provided | 2014-12-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001078860 | SCV000750010 | likely benign | Hypertrophic cardiomyopathy | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453296 | SCV002737463 | likely benign | Cardiovascular phenotype | 2022-06-19 | 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 |
RCV003894854 | SCV004715483 | likely benign | MYH7-related condition | 2022-04-04 | 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). |