Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000874930 | SCV001017171 | likely benign | Tuberous sclerosis 2 | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002399952 | SCV002705192 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-08 | 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. |
Ce |
RCV003886450 | SCV004703789 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | TSC2: BP4, BP7 |