Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002066970 | SCV002367069 | likely benign | not provided | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334229 | SCV002618812 | likely benign | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2022-05-07 | 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. |
Rare Disease Group, |
RCV000735829 | SCV000778869 | uncertain significance | Bladder exstrophy | no assertion criteria provided | research |