Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000247431 | SCV000311013 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Labcorp Genetics |
RCV000462480 | SCV000560889 | likely benign | Costello syndrome | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001597013 | SCV001831620 | likely benign | not provided | 2021-02-09 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000247431 | SCV001983594 | likely benign | not specified | 2021-09-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002328743 | SCV002631102 | likely benign | Cardiovascular phenotype | 2019-07-27 | 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. |