Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000457314 | SCV000556542 | benign | Tuberous sclerosis 2 | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001012889 | SCV001173403 | likely benign | Hereditary cancer-predisposing syndrome | 2018-07-09 | 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- |
RCV000457314 | SCV002041372 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002481489 | SCV002799072 | likely benign | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-07-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003899953 | SCV004714253 | likely benign | TSC2-related condition | 2022-10-24 | 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). |