Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001475963 | SCV001680164 | likely benign | Alstrom syndrome | 2021-09-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002445107 | SCV002733700 | likely benign | Cardiovascular phenotype | 2019-11-04 | 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. |
Natera, |
RCV001475963 | SCV002078991 | likely benign | Alstrom syndrome | 2020-02-25 | no assertion criteria provided | clinical testing |