Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000770387 | SCV000901828 | uncertain significance | Cardiomyopathy | 2016-03-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000770387 | SCV001349594 | uncertain significance | Cardiomyopathy | 2022-12-12 | criteria provided, single submitter | clinical testing | This variant is located in the 5' untranslated region of the MYBPC3 gene. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 6/225576 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |