Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001712373 | SCV000522133 | likely benign | not provided | 2020-01-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001712373 | SCV000544196 | likely benign | not provided | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000565715 | SCV000671490 | likely benign | Hereditary cancer-predisposing syndrome | 2016-02-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Laboratory for Molecular Medicine, |
RCV000439221 | SCV000712575 | uncertain significance | not specified | 2016-11-18 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Pro2045Pro va riant in POLE has not been previously reported in individuals with colorectal ca ncer but has been identified in 5/8596 of East Asian chromosomes by the Exome Ag gregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs368662693). This variant is located in the last three bases of the exon, which is part of th e 5? splice region. Computational tools do not suggest an impact to splicing. Ho wever, this information is not predictive enough to rule out pathogenicity. In s ummary, the clinical significance of the p.Pro2045Pro variant is uncertain altho ugh it is suspected to be more likely benign. |
Center for Genomic Medicine, |
RCV000439221 | SCV004027293 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
True Health Diagnostics | RCV000565715 | SCV000788188 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-09-29 | no assertion criteria provided | clinical testing |