Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000129218 | SCV000183969 | likely benign | Hereditary cancer-predisposing syndrome | 2018-07-27 | 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. |
Gene |
RCV001283869 | SCV000211753 | likely benign | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 14559903, 23259501, 16728565, 15781620, 29979965, 31321604) |
Invitae | RCV000195927 | SCV000253315 | likely benign | Li-Fraumeni syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410083 | SCV000488187 | uncertain significance | Li-Fraumeni syndrome 1 | 2016-01-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000129218 | SCV000911487 | likely benign | Hereditary cancer-predisposing syndrome | 2017-12-11 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001283869 | SCV001469325 | uncertain significance | not provided | 2021-04-16 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000129218 | SCV002530478 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-10 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV002267869 | SCV002551025 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000410083 | SCV004017885 | uncertain significance | Li-Fraumeni syndrome 1 | 2023-04-11 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |