Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000803242 | SCV000943104 | likely benign | Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma | 2023-10-17 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003472372 | SCV004203017 | uncertain significance | Gastrointestinal stromal tumor | 2023-05-18 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004001659 | SCV004824564 | likely benign | Hereditary pheochromocytoma-paraganglioma | 2024-02-05 | criteria provided, single submitter | clinical testing | This variant causes a T to A nucleotide substitution at the -6 position of intron 1 of the SDHB 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 hereditary paranganglioma-pheochromocytoma syndrome 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. |