Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000961623 | SCV001108673 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001015775 | SCV001176648 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-30 | 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. |
ARUP Laboratories, |
RCV000961623 | SCV001474149 | likely benign | not provided | 2020-01-24 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001819034 | SCV002047179 | benign | not specified | 2021-05-24 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001819034 | SCV002069772 | likely benign | not specified | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000961623 | SCV002499782 | uncertain significance | not provided | 2021-09-29 | criteria provided, single submitter | clinical testing | In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards 2015) |
Sema4, |
RCV001015775 | SCV002536063 | likely benign | Hereditary cancer-predisposing syndrome | 2021-02-19 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV001819034 | SCV002550522 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |