Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000539531 | SCV000656036 | benign | Noonan syndrome 9 | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001251287 | SCV001426822 | benign | not specified | 2020-07-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367953 | SCV002658469 | likely benign | Cardiovascular phenotype | 2022-03-23 | 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- |
RCV000539531 | SCV002763125 | benign | Noonan syndrome 9 | criteria provided, single submitter | clinical testing | ||
Prevention |
RCV003905466 | SCV004722241 | benign | SOS2-related condition | 2020-04-06 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |