Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231749 | SCV000290538 | likely benign | Multiple endocrine neoplasia, type 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000431175 | SCV000536032 | likely benign | not specified | 2017-01-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV000567099 | SCV000674807 | likely benign | Hereditary cancer-predisposing syndrome | 2015-11-06 | 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 | RCV000663255 | SCV000786482 | likely benign | Multiple endocrine neoplasia, type 2a | 2018-05-16 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000567099 | SCV002529952 | benign | Hereditary cancer-predisposing syndrome | 2021-09-10 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV000663255 | SCV004018478 | 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. |
Ce |
RCV003415727 | SCV004127597 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | RET: BP4, BP7 |