Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002451634 | SCV002615212 | likely benign | Cardiovascular phenotype | 2020-07-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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, |
RCV001277431 | SCV002779006 | uncertain significance | Alstrom syndrome | 2021-12-21 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001277431 | SCV001464380 | uncertain significance | Alstrom syndrome | 2020-08-13 | no assertion criteria provided | clinical testing |