Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721462 | SCV000535115 | likely benign | not provided | 2018-12-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003766447 | SCV000562678 | likely benign | Familial adenomatous polyposis 1 | 2025-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000562381 | SCV000667313 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-01 | 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. |
Color Diagnostics, |
RCV000562381 | SCV000681799 | likely benign | Hereditary cancer-predisposing syndrome | 2016-09-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003387845 | SCV004099580 | likely benign | not specified | 2023-09-07 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004000566 | SCV004840352 | likely benign | Classic or attenuated familial adenomatous polyposis | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003766447 | SCV005085588 | benign | Familial adenomatous polyposis 1 | 2024-04-04 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001721462 | SCV005625622 | uncertain significance | not provided | 2024-06-26 | criteria provided, single submitter | clinical testing | The APC c.6453A>C (p.Thr2151=) synonymous variant has not been reported in individuals with APC-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect APC mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant. |
Prevention |
RCV003942456 | SCV004762247 | likely benign | APC-related disorder | 2022-10-18 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |