Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226974 | SCV000285451 | likely benign | Tuberous sclerosis 2 | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000564490 | SCV000675599 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-18 | 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 |
RCV001675679 | SCV001895590 | likely benign | not provided | 2019-11-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000226974 | SCV002040260 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000564490 | SCV002534031 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-06 | criteria provided, single submitter | curation |