Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000564101 | SCV000675641 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-25 | 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. |
Gene |
RCV001712588 | SCV000730968 | likely benign | not provided | 2021-03-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000921272 | SCV001066671 | likely benign | Tuberous sclerosis 2 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000921272 | SCV002039896 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |