Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036996 | SCV000060652 | uncertain significance | not specified | 2017-06-07 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Eurofins Ntd Llc |
RCV000724064 | SCV000227207 | uncertain significance | not provided | 2015-07-07 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001086084 | SCV000648392 | likely benign | Dilated cardiomyopathy 1DD | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724064 | SCV000729721 | likely benign | not provided | 2021-04-08 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24503780) |
CHEO Genetics Diagnostic Laboratory, |
RCV000770274 | SCV000901706 | likely benign | Cardiomyopathy | 2023-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345292 | SCV002644843 | likely benign | Cardiovascular phenotype | 2020-10-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 |
RCV003952426 | SCV004775655 | likely benign | RBM20-related disorder | 2023-11-14 | no assertion criteria provided | 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). |