Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001084556 | SCV000765832 | benign | Tuberous sclerosis 2 | 2023-12-12 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257374 | SCV002534123 | likely benign | Hereditary cancer-predisposing syndrome | 2020-11-10 | criteria provided, single submitter | curation | |
Gene |
RCV000034667 | SCV002571481 | uncertain significance | not provided | 2022-03-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18466115) |
Ambry Genetics | RCV002257374 | SCV003867456 | likely benign | Hereditary cancer-predisposing syndrome | 2022-11-21 | 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. |
Biesecker Lab/Clinical Genomics Section, |
RCV000034667 | SCV000043522 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |