Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001174671 | SCV001337889 | likely benign | not specified | 2020-01-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365832 | SCV002665289 | likely benign | Cardiovascular phenotype | 2021-11-19 | 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. |
Invitae | RCV003609179 | SCV004536846 | likely benign | Alstrom syndrome | 2023-05-27 | criteria provided, single submitter | clinical testing |