Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000465620 | SCV000544570 | likely benign | Tuberous sclerosis 2 | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001022340 | SCV001184063 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-28 | 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. |
Gene |
RCV001568800 | SCV001792734 | likely benign | not provided | 2019-07-17 | 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 published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28191889, 27994516) |
Genome- |
RCV000465620 | SCV002039855 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001022340 | SCV002533529 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-09 | criteria provided, single submitter | curation |