Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000222937 | SCV000273526 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-05 | 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 |
RCV000482447 | SCV000570045 | uncertain significance | not provided | 2016-04-20 | criteria provided, single submitter | clinical testing | This variant is denoted APC c.1743+5C>T or IVS14+5C>T and consists of a C>T nucleotide substitution at the +5 position of intron 14 of the APC gene. This variant is not predicted to cause abnormal splicing; however, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. APC c.1743+5C>T was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The cytosine (C) nucleotide that is altered is conserved in mammals. Based on currently available information, it is unclear whether APC c.1743+5C>T is pathogenic or benign. We consider it to be a variant of uncertain significance. |
| Labcorp Genetics |
RCV000813144 | SCV000953489 | likely benign | Familial adenomatous polyposis 1 | 2023-12-22 | criteria provided, single submitter | clinical testing | |
| Genome |
RCV000813144 | SCV001749339 | not provided | Familial adenomatous polyposis 1 | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 07-31-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |