Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555974 | SCV000631749 | likely benign | Alstrom syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001580510 | SCV001817586 | likely benign | not provided | 2021-02-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002404403 | SCV002704531 | likely benign | Cardiovascular phenotype | 2020-08-21 | 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, |
RCV000555974 | SCV001459596 | likely benign | Alstrom syndrome | 2019-10-28 | no assertion criteria provided | clinical testing |