Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PM2_SupportingBP4_Strong
The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
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Verdict is Likely_benign. Variant got -3 ACMG points.
GnomAD3 genomesCov.: 32
Submissions by phenotype
warfarin response - Toxicity/ADR
|drug response, reviewed by expert panel
|Apr 06, 2018
|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. Drug-variant association: Toxicity/ADR
Find out detailed SpliceAI scores and Pangolin per-transcript scores at