Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001079355 | SCV000557761 | likely benign | Gastrointestinal stromal tumor; Paragangliomas 3 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000573820 | SCV000675100 | likely benign | Hereditary cancer-predisposing syndrome | 2017-06-23 | 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 |
RCV000759343 | SCV000715897 | likely benign | not provided | 2021-09-07 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000506595 | SCV000888619 | benign | not specified | 2018-04-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915293 | SCV004735281 | likely benign | SDHC-related condition | 2023-05-04 | 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). |