Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000584528 | SCV000687564 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-03-16 | criteria provided, single submitter | clinical testing | This variant changes 1 nucleotide in exon 5 of the ATM gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, 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). Loss of ATM function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Fulgent Genetics, |
RCV002497227 | SCV002809046 | likely pathogenic | Familial cancer of breast; Ataxia-telangiectasia syndrome | 2021-09-29 | criteria provided, single submitter | clinical testing |