Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000250400 | SCV000305243 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000462257 | SCV000556606 | likely benign | Tuberous sclerosis 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000462257 | SCV002039922 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002338798 | SCV002643119 | likely benign | Hereditary cancer-predisposing syndrome | 2020-03-25 | 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. |