Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001697330 | SCV000715207 | likely benign | not provided | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001460755 | SCV001664634 | likely benign | Alstrom syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002404623 | SCV002713275 | likely benign | Cardiovascular phenotype | 2021-03-04 | 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, |
RCV003488724 | SCV004242122 | likely benign | not specified | 2023-12-10 | criteria provided, single submitter | clinical testing |