Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000603928 | SCV000728817 | likely benign | not specified | 2017-04-27 | 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. |
Invitae | RCV000655068 | SCV000776993 | likely benign | Noonan syndrome 8 | 2023-07-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377320 | SCV002626055 | likely benign | Cardiovascular phenotype | 2020-08-30 | 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. |
Genome- |
RCV000655068 | SCV004050448 | likely benign | Noonan syndrome 8 | 2023-04-11 | criteria provided, single submitter | clinical testing |