Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CSER _CC_NCGL, |
RCV000211466 | SCV000212203 | uncertain significance | Tuberous sclerosis syndrome | 2015-03-11 | criteria provided, single submitter | research | |
Labcorp Genetics |
RCV000542869 | SCV000644317 | benign | Tuberous sclerosis 2 | 2025-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001580472 | SCV001817552 | likely benign | not provided | 2021-04-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000542869 | SCV002039617 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415885 | SCV002725712 | likely benign | Hereditary cancer-predisposing syndrome | 2020-04-01 | 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. |
Mayo Clinic Laboratories, |
RCV001580472 | SCV005411193 | uncertain significance | not provided | 2024-08-12 | criteria provided, single submitter | clinical testing | BS2 |