Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000233484 | SCV000285364 | benign | Tuberous sclerosis 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001722214 | SCV000515040 | likely benign | not provided | 2019-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001021078 | SCV001182648 | likely benign | Hereditary cancer-predisposing syndrome | 2015-03-30 | 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- |
RCV000233484 | SCV002039371 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001021078 | SCV002533449 | benign | Hereditary cancer-predisposing syndrome | 2020-10-22 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002487049 | SCV002796679 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-09-07 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000233484 | SCV004360905 | likely benign | Tuberous sclerosis 2 | 2022-10-03 | criteria provided, single submitter | clinical testing |