Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000476856 | SCV000546790 | likely benign | Ataxia-telangiectasia syndrome | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001189959 | SCV001357358 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-10 | criteria provided, single submitter | clinical testing | This variant causes a C>A nucleotide substitution at the -7 position of intron 12 of the ATM gene. Splice site prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer 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. |
Natera, |
RCV000476856 | SCV002081650 | uncertain significance | Ataxia-telangiectasia syndrome | 2020-09-10 | no assertion criteria provided | clinical testing |