Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189962 | SCV000243633 | likely benign | not provided | 2021-06-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000205768 | SCV000262300 | benign | Tuberous sclerosis 2 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000573793 | SCV000675498 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-21 | 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- |
RCV000205768 | SCV002041235 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000573793 | SCV002534076 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-25 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002500580 | SCV002808302 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-02-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000189962 | SCV004133805 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | TSC2: BP4, BS2 |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000189962 | SCV004221475 | uncertain significance | not provided | 2010-11-08 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000205768 | SCV004360848 | likely benign | Tuberous sclerosis 2 | 2022-09-12 | criteria provided, single submitter | clinical testing |