Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000642064 | SCV000763717 | benign | Tuberous sclerosis 1 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001010682 | SCV001170915 | likely benign | Hereditary cancer-predisposing syndrome | 2021-09-07 | 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. |
Gene |
RCV001692245 | SCV001913113 | benign | not provided | 2020-10-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29185092, 28087349, 30111351, 28873162) |
Genome- |
RCV000642064 | SCV002040115 | benign | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001010682 | SCV002530895 | benign | Hereditary cancer-predisposing syndrome | 2022-03-16 | criteria provided, single submitter | curation | |
All of Us Research Program, |
RCV004003973 | SCV004840466 | likely benign | Tuberous sclerosis syndrome | 2023-03-23 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000642064 | SCV005406300 | likely benign | Tuberous sclerosis 1 | 2024-08-07 | 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. |