Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV001287974 | SCV001474748 | likely benign | not provided | 2020-08-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001462979 | SCV001666908 | likely benign | Alstrom syndrome | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379979 | SCV002671246 | likely benign | Cardiovascular phenotype | 2020-03-16 | 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. |