Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000530813 | SCV000644356 | benign | Tuberous sclerosis 2 | 2023-12-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001696996 | SCV000724589 | likely benign | not provided | 2019-09-09 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26873401, 25589618) |
Ambry Genetics | RCV001016020 | SCV001176926 | likely benign | Hereditary cancer-predisposing syndrome | 2017-12-07 | 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- |
RCV000530813 | SCV002039222 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001016020 | SCV002531095 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-16 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001696996 | SCV004221421 | uncertain significance | not provided | 2016-08-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001696996 | SCV004699838 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | TSC2: BP4, BP7 |
Prevention |
RCV003942810 | SCV004766026 | likely benign | TSC2-related condition | 2019-03-05 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |