Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001020579 | SCV001182078 | likely benign | Hereditary cancer-predisposing syndrome | 2017-12-15 | 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. |
| Labcorp Genetics |
RCV001069942 | SCV001235142 | likely benign | Retinoblastoma | 2023-11-12 | criteria provided, single submitter | clinical testing | |
| Sema4, |
RCV001020579 | SCV002530845 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-16 | criteria provided, single submitter | curation | |
| All of Us Research Program, |
RCV001069942 | SCV004847090 | uncertain significance | Retinoblastoma | 2023-12-01 | criteria provided, single submitter | clinical testing | This synonymous variant causes a T>A nucleotide change in exon 3 of the PALB2 gene. To our knowledge, functional studies have not been reported for this variant. Splice site prediction tools suggest that this variant may have a significant impact on RNA splicing. However, this prediction has not been confirmed in published RNA studies. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 5/251152 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. |