Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000877280 | SCV001019994 | likely benign | Noonan syndrome 9 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002454049 | SCV002616681 | benign | Cardiovascular phenotype | 2019-09-28 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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- |
RCV000877280 | SCV002762983 | likely benign | Noonan syndrome 9 | criteria provided, single submitter | clinical testing | ||
Prevention |
RCV003948254 | SCV004766288 | likely benign | SOS2-related disorder | 2020-11-10 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |