Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001450079 | SCV000218519 | likely benign | Renal cell carcinoma | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Vantari Genetics | RCV000210818 | SCV000267041 | uncertain significance | Hereditary cancer-predisposing syndrome | 2015-12-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000210818 | SCV000673696 | benign | Hereditary cancer-predisposing syndrome | 2020-09-11 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Mendelics | RCV000167873 | SCV000838226 | likely benign | Papillary renal cell carcinoma type 1 | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001560219 | SCV001782583 | uncertain significance | not provided | 2023-06-16 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with lymphedema or breast cancer (Finegold et al., 2008; Guindalini et al., 2022); This variant is associated with the following publications: (PMID: 24728327, 25637381, 32171644, 24339735, 18564920, 35264596, 30530636) |
Sema4, |
RCV000210818 | SCV002532182 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-01 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000121347 | SCV004024373 | uncertain significance | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965017 | SCV004780290 | likely benign | MET-related condition | 2022-08-01 | 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). |
ITMI | RCV000121347 | SCV000085525 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
CSER _CC_NCGL, |
RCV000148614 | SCV000190329 | likely benign | Lymphedema | 2014-06-01 | no assertion criteria provided | research |