Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000526535 | SCV000648486 | benign | Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001696999 | SCV000718664 | likely benign | not provided | 2020-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617787 | SCV000740055 | likely benign | Cardiovascular phenotype | 2016-10-12 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV001170494 | SCV001333077 | benign | Cardiomyopathy | 2017-12-01 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000615643 | SCV001918965 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001696999 | SCV001926345 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001696999 | SCV001970810 | likely benign | not provided | no assertion criteria provided | clinical testing |