Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000199148 | SCV000255043 | likely benign | Multiple endocrine neoplasia, type 2 | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000573373 | SCV000674748 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-02 | 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. |
Counsyl | RCV000663114 | SCV000786243 | likely benign | Multiple endocrine neoplasia, type 2a | 2018-03-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003417723 | SCV004127592 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | RET: BP4, BP7 |