Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000441258 | SCV000535466 | likely benign | not specified | 2016-12-27 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Counsyl | RCV000670946 | SCV000795870 | uncertain significance | Alstrom syndrome | 2017-11-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000670946 | SCV001708931 | likely benign | Alstrom syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002446756 | SCV002682988 | likely benign | Cardiovascular phenotype | 2020-05-27 | 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, |
RCV000670946 | SCV001459586 | uncertain significance | Alstrom syndrome | 2020-01-24 | no assertion criteria provided | clinical testing |