Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000197424 | SCV000252849 | benign | Multiple endocrine neoplasia, type 2 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000561411 | SCV000674869 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-31 | 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 | RCV000663049 | SCV000786099 | likely benign | Multiple endocrine neoplasia, type 2a | 2018-02-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002225268 | SCV002504182 | likely benign | not provided | 2020-05-27 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Sema4, |
RCV000561411 | SCV002529982 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-02 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV000663049 | SCV004018480 | 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. |