Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Genetics Summaries | RCV000787933 | SCV000926952 | 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 | RCV000788097 | SCV000927095 | 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 | RCV000788103 | SCV000927101 | 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. |
Invitae | RCV001522200 | SCV001731693 | benign | not provided | 2023-07-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001522200 | SCV002005468 | likely benign | not provided | 2018-08-30 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25087612, 24118918, 22378156, 23376925, 23752738, 25142737, 25832633) |