Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000530144 | SCV000648077 | likely benign | Rhabdoid tumor predisposition syndrome 2 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000568007 | SCV000664062 | likely benign | Hereditary cancer-predisposing syndrome | 2020-02-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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- |
RCV001809521 | SCV002056213 | likely benign | Intellectual disability, autosomal dominant 16 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000568007 | SCV002532923 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-23 | criteria provided, single submitter | curation |