Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000363569 | SCV000338709 | other | not provided | 2015-12-28 | criteria provided, single submitter | clinical testing | |
Medical Genetics Summaries | RCV000787932 | SCV000926951 | 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 | RCV000788096 | SCV000927094 | 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 | RCV000788102 | SCV000927100 | 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 |
RCV000363569 | SCV002004848 | likely benign | not provided | 2018-08-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000363569 | SCV003257644 | benign | not provided | 2021-04-14 | criteria provided, single submitter | clinical testing |