Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001188375 | SCV001355430 | uncertain significance | Cardiomyopathy | 2023-10-09 | criteria provided, single submitter | clinical testing | This variant is located in the 5' untranslated region of the TPM1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TPM1-related disorders in the literature. This variant has been identified in 14/246864 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. |
Fulgent Genetics, |
RCV002497657 | SCV002777996 | uncertain significance | Hypertrophic cardiomyopathy 3; Dilated cardiomyopathy 1Y | 2021-10-05 | criteria provided, single submitter | clinical testing |