Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000234628 | SCV000284706 | benign | Tuberous sclerosis 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001703927 | SCV000523849 | likely benign | not provided | 2020-12-09 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22161988, 26494726) |
Ambry Genetics | RCV000561284 | SCV000675384 | likely benign | Hereditary cancer-predisposing syndrome | 2023-05-30 | 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. |
Genome- |
RCV000234628 | SCV002040365 | benign | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496669 | SCV002809229 | likely benign | Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II | 2022-03-24 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042236 | SCV000066022 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
Prevention |
RCV003964894 | SCV004777944 | likely benign | TSC1-related disorder | 2022-11-10 | no assertion criteria provided | 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). |