Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000461466 | SCV000544352 | benign | Tuberous sclerosis 2 | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001019752 | SCV001181149 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-15 | 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. |
Al Jalila Children's Genomics Center, |
RCV001731687 | SCV001984031 | likely benign | not specified | 2020-08-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000461466 | SCV002039309 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001019752 | SCV002533383 | likely benign | Hereditary cancer-predisposing syndrome | 2020-07-14 | criteria provided, single submitter | curation |