ClinVar Miner

Submissions for variant NM_000106.5(CYP2D6):c.506-1G>A (rs3892097)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000342450 SCV000331716 other not provided 2018-08-06 criteria provided, single submitter clinical testing
GeneDx 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.
OMIM RCV000018385 SCV000038667 drug response Debrisoquine, poor metabolism of 2015-05-18 no assertion criteria provided literature only
PharmGKB RCV000211307 SCV000268306 drug response tamoxifen response - Efficacy, Toxicity/ADR 2016-07-11 reviewed by expert panel curation PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.
PharmGKB RCV000211390 SCV000268307 drug response amitriptyline response - Dosage, Toxicity/ADR 2015-10-14 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000211174 SCV000268308 drug response antidepressants response - Dosage, Toxicity/ADR 2015-10-14 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000211293 SCV000268309 drug response clomipramine response - Dosage, Toxicity/ADR 2015-10-14 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000211422 SCV000268310 drug response desipramine response - Dosage, Toxicity/ADR 2015-10-14 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000211167 SCV000268311 drug response doxepin response - Dosage, Toxicity/ADR 2015-10-14 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000211292 SCV000268312 drug response imipramine response - Dosage, Toxicity/ADR 2015-10-14 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000211415 SCV000268313 drug response nortriptyline response - Dosage, Toxicity/ADR 2015-10-14 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000211232 SCV000268314 drug response trimipramine response - Dosage, Toxicity/ADR 2015-10-14 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.

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