Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000608019 | SCV000716390 | likely benign | not specified | 2017-03-03 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000608019 | SCV001361622 | benign | not specified | 2019-12-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001431833 | SCV001634594 | likely benign | Noonan syndrome 9 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813518 | SCV002060670 | benign | Noonan syndrome and Noonan-related syndrome | 2021-06-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002438559 | SCV002749305 | likely benign | Cardiovascular phenotype | 2022-03-03 | 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- |
RCV001431833 | SCV002763145 | likely benign | Noonan syndrome 9 | criteria provided, single submitter | clinical testing |