Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000873915 | SCV001016010 | benign | Noonan syndrome 9 | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001709695 | SCV001937016 | benign | not provided | 2019-12-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002363287 | SCV002666788 | benign | Cardiovascular phenotype | 2021-02-08 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Genome- |
RCV000873915 | SCV002763119 | benign | Noonan syndrome 9 | criteria provided, single submitter | clinical testing | ||
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002469311 | SCV002766337 | benign | not specified | 2022-11-19 | criteria provided, single submitter | clinical testing |