Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000563590 | SCV000675413 | likely benign | Hereditary cancer-predisposing syndrome | 2020-10-05 | 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. |
Labcorp Genetics |
RCV000641975 | SCV000763627 | benign | Tuberous sclerosis 1 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764814 | SCV000895965 | uncertain significance | Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000641975 | SCV002040162 | likely benign | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000563590 | SCV002531464 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-08 | criteria provided, single submitter | curation | |
Ce |
RCV003431131 | SCV004156657 | uncertain significance | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000641975 | SCV005406022 | likely benign | Tuberous sclerosis 1 | 2024-08-23 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance. |