Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PM2_Supporting
The NM_000106(CYP2D6):c.506-1G>T variant causes a splice acceptor change. The variant was absent in control chromosomes in GnomAD Genomes project. 2/2 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Verdict is Uncertain_significance. Variant got 1 ACMG points.
GnomAD3 genomesCov.: 32
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
No publications associated with this variant yet.