Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557235 | SCV000648686 | likely benign | Neuroblastoma, susceptibility to, 3 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002324013 | SCV002609669 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-12 | 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. |
KCCC/NGS Laboratory, |
RCV000557235 | SCV004016766 | likely benign | Neuroblastoma, susceptibility to, 3 | 2023-07-07 | criteria provided, single submitter | clinical testing |