Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000460418 | SCV000556494 | benign | Tuberous sclerosis 2 | 2023-12-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001010921 | SCV001171186 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-05 | 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. |
Genome- |
RCV000460418 | SCV002041320 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001010921 | SCV002532767 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-09 | criteria provided, single submitter | curation |