Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001505311 | SCV001710204 | likely benign | Legius syndrome | 2021-06-13 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813434 | SCV002060929 | uncertain significance | Noonan syndrome and Noonan-related syndrome | 2019-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165655 | SCV003858439 | likely benign | Cardiovascular phenotype | 2023-02-02 | 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. |
Ce |
RCV003401189 | SCV004136303 | likely benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | SPRED1: BP4, BP7 |