Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000945880 | SCV001091944 | likely benign | Tuberous sclerosis 1 | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002445097 | SCV002732871 | likely benign | Hereditary cancer-predisposing syndrome | 2020-07-14 | 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 |
RCV003886457 | SCV004703549 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | TSC1: PM2:Supporting, BP4, BP7 |