Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000342450 | SCV000331716 | other | not provided | 2018-08-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000613767 | SCV000730662 | 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 | RCV001030442 | SCV001193760 | drug response | Deutetrabenazine response | 2019-05-01 | criteria provided, single submitter | curation | Individuals who do not have any fully functional alleles are either intermediate metabolizers (one decreased function and one no function allele, e.g., *4/*41) or poor metabolizers (2 no function alleles, e.g., *4/*4).Therapeutic recommendations from professional societies state that the maximum dose of deutetrabenazine should not exceed 36 mg per day in individuals with 2 decreased function alleles (CYP2D6 poor metabolizers) to avoid abnormally high plasma levels due to reduced metabolic clearance. |
Medical Genetics Summaries | RCV001093714 | SCV001250909 | drug response | Tamoxifen response | 2019-05-01 | criteria provided, single submitter | curation | Individuals who do not have any fully functional alleles are either intermediate metabolizers (one decreased function and one no function allele, e.g., *4/*41) or poor metabolizers (2 no function alleles, e.g., *4/*4). Currently, there is no consensus on therapeutic guidelines for tamoxifen based on CYP2D6 genotype. Professional societies suggest that poor metabolizers may benefit less from tamoxifen therapy because they have lower concentrations of tamoxifen's major active metabolite, endoxifin, compared with normal metabolizers. |
OMIM | RCV000018385 | SCV000038667 | drug response | Debrisoquine, poor metabolism of | 2015-05-18 | no assertion criteria provided | literature only | |
Bruce Budowle Laboratory, |
RCV001028774 | SCV001191560 | drug response | Tramadol response | 2018-04-28 | no assertion criteria provided | research |