Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000637312 | SCV000758763 | likely benign | Costello syndrome | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000781470 | SCV000919527 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001564192 | SCV001787315 | likely benign | not provided | 2019-03-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002386025 | SCV002695192 | likely benign | Cardiovascular phenotype | 2019-05-16 | 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. |