Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000123310 | SCV000166617 | likely benign | Multiple endocrine neoplasia, type 2 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000411631 | SCV000489737 | likely benign | Multiple endocrine neoplasia, type 2b | 2015-11-20 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000409657 | SCV000489738 | likely benign | Multiple endocrine neoplasia, type 2a | 2015-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000567941 | SCV000674741 | likely benign | Hereditary cancer-predisposing syndrome | 2016-04-18 | 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. |
Myriad Genetics, |
RCV000409657 | SCV004018481 | benign | Multiple endocrine neoplasia, type 2a | 2023-04-18 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |