Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pharm |
RCV000211192 | SCV000268411 | drug response | interferons, peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy | 2021-03-29 | reviewed by expert panel | curation | PharmGKB Level of Evidence 1B: Level 1B clinical annotations describe variant-drug combinations with a high level of evidence supporting the association but no variant-specific prescribing guidance in an annotated clinical guideline or FDA drug label. Level 1B clinical annotations must be supported by at least two independent publications. |
Pharm |
RCV000211316 | SCV000268412 | drug response | peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy | 2021-03-24 | reviewed by expert panel | curation | PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2A clinical annotations must be supported by at least two independent publications. |
Gene |
RCV000835188 | SCV000976971 | benign | not provided | 2018-03-14 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |