Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730444 | SCV000858180 | uncertain significance | not provided | 2017-11-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000730444 | SCV001119541 | likely benign | not provided | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816799 | SCV002068109 | uncertain significance | not specified | 2021-01-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002388364 | SCV002697028 | likely benign | Cardiovascular phenotype | 2019-09-02 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001816799 | SCV004029680 | likely benign | not specified | 2023-07-18 | criteria provided, single submitter | clinical testing |