Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231265 | SCV000290071 | likely benign | Alstrom syndrome | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001547573 | SCV001767316 | likely benign | not provided | 2018-07-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365208 | SCV002661731 | likely benign | Cardiovascular phenotype | 2020-06-19 | 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. |