Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000583077 | SCV000686853 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-29 | criteria provided, single submitter | clinical testing | This variant causes a T to C nucleotide substitution at the -3 position of intron 14 of the APC 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 1/251084 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. |
Gene |
RCV000826981 | SCV000968587 | likely benign | not provided | 2018-06-11 | 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. |
Invitae | RCV002232694 | SCV001377709 | likely benign | Familial adenomatous polyposis 1 | 2023-07-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000583077 | SCV002711580 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-28 | criteria provided, single submitter | clinical testing | The c.1744-3T>C intronic variant results from a T to C substitution 3 nucleotides upstream from coding exon 14 in the APC gene. This nucleotide position is not 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. |