Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723560 | SCV000331315 | other | not provided | 2015-07-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000309101 | SCV000730664 | likely benign | not specified | 2018-03-09 | 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. |
Medical Genetics Summaries | RCV000787929 | SCV000926948 | 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 | RCV000788093 | SCV000927091 | 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 | RCV000788099 | SCV000927097 | 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. |
OMIM | RCV000008920 | SCV000029130 | drug response | Warfarin response | 2018-08-09 | no assertion criteria provided | literature only | |
Equipe Genetique des Anomalies du Developpement, |
RCV001263463 | SCV001441533 | drug response | Phenytoin response | 2020-09-24 | no assertion criteria provided | case-control | May cause toxicity/ADR and poor metabolism/PK |