Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001719065 | SCV000728362 | likely benign | not provided | 2019-12-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001395306 | SCV001597012 | likely benign | Alstrom syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325181 | SCV002607295 | likely benign | Cardiovascular phenotype | 2019-12-19 | 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. |
Fulgent Genetics, |
RCV001395306 | SCV002800966 | likely benign | Alstrom syndrome | 2021-11-18 | criteria provided, single submitter | clinical testing |