Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001485111 | SCV001689539 | likely benign | Alstrom syndrome | 2021-11-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000542083 | SCV001823786 | likely benign | not provided | 2020-03-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002413479 | SCV002717372 | likely benign | Cardiovascular phenotype | 2019-12-13 | 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. |
Fulgent Genetics, |
RCV001485111 | SCV002804726 | likely benign | Alstrom syndrome | 2021-11-16 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001485111 | SCV002080434 | likely benign | Alstrom syndrome | 2021-09-14 | no assertion criteria provided | clinical testing |