Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000460205 | SCV000243687 | benign | not provided | 2020-02-11 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27153395, 19254590, 25637381, 29655203) |
Invitae | RCV001086061 | SCV000544309 | benign | Tuberous sclerosis 2 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000561674 | SCV000675507 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-21 | 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. |
Ce |
RCV000460205 | SCV001156189 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | TSC2: BP1, BS2 |
Genome- |
RCV001086061 | SCV002041190 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000561674 | SCV002531048 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-28 | criteria provided, single submitter | curation | |
Prevention |
RCV003905280 | SCV004718370 | likely benign | TSC2-related condition | 2023-03-13 | 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). |
CSER _CC_NCGL, |
RCV000148919 | SCV000190675 | uncertain significance | Tuberous sclerosis syndrome | 2014-06-01 | no assertion criteria provided | research |