Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780078 | SCV000917101 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001491316 | SCV001695903 | likely benign | Long QT syndrome | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002386361 | SCV002691306 | likely benign | Cardiovascular phenotype | 2018-05-02 | 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. |
Ce |
RCV003326494 | SCV004033178 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | CACNA1C: BP4, BP7 |