Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000464492 | SCV000560898 | likely benign | Costello syndrome | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001420905 | SCV001623350 | likely benign | not specified | 2021-04-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001575546 | SCV001802561 | likely benign | not provided | 2021-06-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350036 | SCV002645059 | likely benign | Cardiovascular phenotype | 2019-06-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Ce |
RCV001575546 | SCV004134981 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | HRAS: BP4, BP7 |
Prevention |
RCV003970343 | SCV004783294 | likely benign | HRAS-related disorder | 2020-09-09 | no assertion criteria provided | 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). |