Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001188719 | SCV001355853 | uncertain significance | Cardiomyopathy | 2018-12-05 | criteria provided, single submitter | clinical testing | Variant of Uncertain Significance due to insufficient evidence: This variant is located close to intron 2 canonical splice site of the MYL3 gene. Computational splicing tools predict that this variant may have a significant impact on RNA splicing. To our knowledge, RNA study has not been performed to confirm the prediction. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively. |
Fulgent Genetics, |
RCV002484032 | SCV002794400 | uncertain significance | Hypertrophic cardiomyopathy 8 | 2021-08-20 | criteria provided, single submitter | clinical testing |