Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000561000 | SCV000660695 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Gene |
RCV000613919 | SCV000715578 | likely benign | not specified | 2017-03-15 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
| Labcorp Genetics |
RCV001063793 | SCV001228655 | likely benign | Ataxia-telangiectasia syndrome | 2023-11-28 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000561000 | SCV001735145 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-02 | criteria provided, single submitter | clinical testing | This variant causes a T to G nucleotide substitution at the +4 position of intron 5 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 been identified in 1/251312 chromosomes 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. |