Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000702237 | SCV000831083 | benign | Tuberous sclerosis 2 | 2023-08-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334356 | SCV002639064 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-03 | 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. |
Ce |
RCV003392539 | SCV004129866 | benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | TSC2: PP3, BS1, BS2 |