Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000427770 | SCV000515010 | benign | not specified | 2015-08-07 | 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 | RCV001082427 | SCV000556497 | benign | Tuberous sclerosis 2 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571297 | SCV000675526 | benign | Hereditary cancer-predisposing syndrome | 2016-01-21 | 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. |
Eurofins Ntd Llc |
RCV000727275 | SCV000707167 | uncertain significance | not provided | 2017-03-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001082427 | SCV002041089 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000571297 | SCV002534093 | benign | Hereditary cancer-predisposing syndrome | 2021-02-09 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000727275 | SCV004221477 | benign | not provided | 2017-12-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000043158 | SCV000066957 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |