Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666336 | SCV000790611 | likely benign | Alstrom syndrome | 2017-03-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000666336 | SCV001091821 | likely benign | Alstrom syndrome | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001706701 | SCV001815442 | likely benign | not provided | 2020-11-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343416 | SCV002646345 | likely benign | Cardiovascular phenotype | 2021-02-27 | 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. |
Fulgent Genetics, |
RCV000666336 | SCV002813041 | likely benign | Alstrom syndrome | 2022-03-14 | criteria provided, single submitter | clinical testing |