Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674919 | SCV000800334 | likely benign | Alstrom syndrome | 2018-06-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000674919 | SCV001692838 | likely benign | Alstrom syndrome | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002331311 | SCV002633071 | likely benign | Cardiovascular phenotype | 2021-05-30 | 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. |