Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703933 | SCV000516162 | benign | not provided | 2020-12-29 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 15595939, 32906206) |
Invitae | RCV000457664 | SCV000556691 | benign | Tuberous sclerosis 2 | 2023-12-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000457664 | SCV002039412 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354223 | SCV002622344 | likely benign | Hereditary cancer-predisposing syndrome | 2020-05-15 | 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. |
Revvity Omics, |
RCV000457664 | SCV004236974 | uncertain significance | Tuberous sclerosis 2 | 2023-08-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003894876 | SCV004716210 | likely benign | TSC2-related condition | 2023-06-12 | 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). |
All of Us Research Program, |
RCV000042541 | SCV004829689 | likely benign | Tuberous sclerosis syndrome | 2023-08-08 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042541 | SCV000066334 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |