Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076508 | SCV000107537 | likely benign | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Multifactorial likelihood analysis posterior probability 0.001-0.049 |
Invitae | RCV000524395 | SCV000284154 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001284511 | SCV000521068 | likely benign | not provided | 2021-04-14 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22290698, 22102614, 14871975, 18415027, 18383312, 23417712) |
Laboratory for Molecular Medicine, |
RCV000438978 | SCV000539691 | uncertain significance | not specified | 2016-10-20 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Classified as LB by InSiGHT expert panel. Another variant at the same position (Ser860X) has been classified as P. |
Ambry Genetics | RCV000575134 | SCV000662244 | likely benign | Hereditary cancer-predisposing syndrome | 2023-06-06 | 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. |
Color Diagnostics, |
RCV000575134 | SCV000690081 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-18 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284511 | SCV001470344 | uncertain significance | not provided | 2020-07-17 | criteria provided, single submitter | clinical testing | |
Institute for Biomarker Research, |
RCV000575134 | SCV004014887 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-06-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952495 | SCV004773025 | likely benign | MSH2-related condition | 2023-12-07 | criteria provided, single submitter | 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). |