Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163488 | SCV000214045 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Invitae | RCV000532306 | SCV000644376 | benign | Tuberous sclerosis 2 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001589024 | SCV001823223 | likely benign | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000532306 | SCV002039249 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498808 | SCV002807319 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-09-27 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003995259 | SCV004818775 | likely benign | Tuberous sclerosis syndrome | 2023-10-30 | criteria provided, single submitter | clinical testing |