Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Genetics Summaries | RCV000787934 | SCV000926953 | drug response | Flurbiprofen response | 2019-02-11 | criteria provided, single submitter | curation | The dose of flurbiprofen should be reduced in individuals with 2 decreased function alleles (CYP2C9 poor metabolizers) to avoid abnormally high plasma levels due to reduced metabolic clearance. |
Medical Genetics Summaries | RCV000788098 | SCV000927096 | drug response | Lesinurad response | 2019-02-11 | criteria provided, single submitter | curation | Lesinurad should be used with caution in individuals with 2 decreased function alleles (CYP2C9 poor metabolizers) because of increased exposure and an increased risk of side effects. |
Medical Genetics Summaries | RCV000788104 | SCV000927102 | drug response | Piroxicam response | 2019-02-11 | criteria provided, single submitter | curation | Individuals with 2 decreased function alleles (CYP2C9 poor metabolizers) have reduced clearance of piroxicam. Because the standard recommended dose of piroxicam may cause abnormally high plasma levels, a dose reduction should be considered for these individuals. |
Gene |
RCV000835752 | SCV000977568 | likely 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. |
Labcorp Genetics |
RCV000835752 | SCV001718144 | benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing |