Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535385 | SCV000644571 | likely benign | Tuberous sclerosis 2 | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566134 | SCV000675465 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-26 | 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. |
Gene |
RCV001697041 | SCV000727975 | likely benign | not provided | 2020-12-02 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000535385 | SCV002039527 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000566134 | SCV002533975 | likely benign | Hereditary cancer-predisposing syndrome | 2021-09-25 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002490631 | SCV002800640 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-02-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001697041 | SCV004129871 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | TSC2: BP4, BP7 |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001697041 | SCV004221461 | uncertain significance | not provided | 2013-05-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003964907 | SCV004777503 | likely benign | TSC2-related condition | 2020-02-19 | 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). |
Tuberous sclerosis database |
RCV000055349 | SCV000083569 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |