Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000197196 | SCV000253310 | likely benign | Li-Fraumeni syndrome | 2024-10-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000219692 | SCV000275457 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-24 | 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, |
RCV000219692 | SCV000908797 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781914 | SCV000920318 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001283868 | SCV001469319 | likely benign | not provided | 2020-07-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001283868 | SCV001825608 | likely benign | not provided | 2021-05-21 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000219692 | SCV002582264 | likely benign | Hereditary cancer-predisposing syndrome | 2022-06-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002288804 | SCV002582925 | likely benign | Li-Fraumeni syndrome 1 | 2022-06-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895265 | SCV004709472 | likely benign | TP53-related disorder | 2023-11-28 | 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). |