Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000537076 | SCV000641586 | benign | not provided | 2017-08-04 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256368 | SCV002528886 | benign | Hereditary cancer-predisposing syndrome | 2021-05-20 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002483423 | SCV002796044 | likely benign | Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II | 2021-10-27 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003999207 | SCV004833010 | uncertain significance | Tuberous sclerosis syndrome | 2023-10-02 | criteria provided, single submitter | clinical testing | This variant causes a deletion of four nucleotides at the -4 position in intron 20 of the TSC1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC1-related disorders in the literature. This variant has not been identified 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. |