Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000868845 | SCV001010221 | likely benign | Legius syndrome | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001192641 | SCV001360895 | likely benign | not specified | 2019-09-20 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813558 | SCV002060919 | uncertain significance | Noonan syndrome and Noonan-related syndrome | 2020-03-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442838 | SCV002753259 | likely benign | Cardiovascular phenotype | 2022-09-05 | 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. |
ARUP Laboratories, |
RCV000868845 | SCV004563193 | likely benign | Legius syndrome | 2022-12-19 | criteria provided, single submitter | clinical testing |