Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001086082 | SCV000556583 | benign | Tuberous sclerosis 2 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000462179 | SCV000727590 | likely benign | not provided | 2021-02-15 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26563443) |
Ambry Genetics | RCV002257740 | SCV000846740 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-17 | 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. |
Genome- |
RCV001086082 | SCV002041082 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257740 | SCV002534079 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-31 | criteria provided, single submitter | curation |