Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721416 | SCV000533396 | likely benign | not provided | 2021-08-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000477046 | SCV000556556 | benign | Tuberous sclerosis 2 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000477046 | SCV002039221 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429437 | SCV002740387 | likely benign | Hereditary cancer-predisposing syndrome | 2019-06-04 | 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. |