Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189937 | SCV000243604 | likely benign | not specified | 2016-11-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000644309 | SCV000766002 | benign | Tuberous sclerosis 2 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001023245 | SCV001185093 | benign | Hereditary cancer-predisposing syndrome | 2022-12-22 | criteria provided, single submitter | clinical testing | This alteration is classified as 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- |
RCV000644309 | SCV002040231 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001023245 | SCV002533989 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-08 | criteria provided, single submitter | curation | |
Tuberous sclerosis database |
RCV000043146 | SCV000066945 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |