Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649955 | SCV000771792 | likely benign | Cutis laxa, autosomal recessive, type 1B | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002424516 | SCV002744366 | likely benign | Cardiovascular phenotype | 2022-03-23 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330865 | SCV004039368 | likely benign | not specified | 2023-08-24 | criteria provided, single submitter | clinical testing |