Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000539940 | SCV000631762 | likely benign | Alstrom syndrome | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000827029 | SCV000968641 | likely benign | not provided | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367799 | SCV002661192 | likely benign | Cardiovascular phenotype | 2019-09-03 | 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, |
RCV000539940 | SCV002807534 | likely benign | Alstrom syndrome | 2021-08-16 | criteria provided, single submitter | clinical testing |