Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000230681 | SCV000285286 | likely benign | Tuberous sclerosis 2 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315685 | SCV000848454 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-02 | 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- |
RCV000230681 | SCV002039634 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV002261015 | SCV002541302 | uncertain significance | not provided | 2021-12-06 | criteria provided, single submitter | clinical testing |