Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV003492146 | SCV000838651 | likely benign | Hereditary cancer | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Molecular Oncology Research Center, |
RCV001374530 | SCV001438673 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2020-08-01 | criteria provided, single submitter | research | |
Institute of Human Genetics, |
RCV001262455 | SCV001440338 | likely benign | Seizure | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001494287 | SCV001698939 | likely benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001494287 | SCV001801130 | uncertain significance | not provided | 2024-11-07 | criteria provided, single submitter | clinical testing | Observed in individuals with breast (male and female) and/or ovarian cancer, but also in unaffected controls (PMID: 25915596, 30613976, 32546565); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (PMID: 25741868); This variant is associated with the following publications: (PMID: 26455304, 30613976, 25915596, 27377421, 32546565, 19151156, 27248010, Carpenter2024[computational], 38633426) |
Ambry Genetics | RCV002477639 | SCV002619648 | benign | not specified | 2020-06-25 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002477639 | SCV002773954 | benign | not specified | 2021-06-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945728 | SCV004761727 | likely benign | RECQL-related disorder | 2022-04-15 | 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). |