Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000634817 | SCV000756161 | likely benign | Alstrom syndrome | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001280654 | SCV001467930 | likely benign | not specified | 2020-12-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002358783 | SCV002621909 | likely benign | Cardiovascular phenotype | 2020-01-14 | 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, |
RCV000634817 | SCV002810620 | likely benign | Alstrom syndrome | 2021-08-30 | criteria provided, single submitter | clinical testing |