Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000199012 | SCV000254648 | likely benign | Chuvash polycythemia; Von Hippel-Lindau syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000565432 | SCV000664620 | likely benign | Hereditary cancer-predisposing syndrome | 2022-05-02 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Counsyl | RCV000662921 | SCV000785868 | uncertain significance | Von Hippel-Lindau syndrome | 2017-12-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001588971 | SCV001822387 | likely benign | not provided | 2020-11-25 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously reported as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28188106, 24728327, 24727139) |
Laboratory of Molecular Epidemiology of Birth Defects, |
RCV003153403 | SCV003843386 | benign | Ovarian cancer | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001588971 | SCV004237520 | uncertain significance | not provided | 2023-03-28 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000122259 | SCV000086483 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |