Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001040051 | SCV001203606 | likely benign | Ataxia-telangiectasia syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372767 | SCV002625587 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-22 | criteria provided, single submitter | clinical testing | The c.3993+4T>C intronic variant results from a T to C substitution 4 nucleotides after coding exon 25 in the ATM gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Color Diagnostics, |
RCV002372767 | SCV004360839 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-09 | criteria provided, single submitter | clinical testing | This variant causes a T to C nucleotide substitution at the +4 position of intron 26 of the ATM gene. To our knowledge, functional studies have not been reported 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, |
RCV001040051 | SCV002081581 | uncertain significance | Ataxia-telangiectasia syndrome | 2021-06-16 | no assertion criteria provided | clinical testing |