Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The variant allele was found at a frequency of 0.0000438 in 22848 control chromosomes in the gnomAD Genomes database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Verdict is Uncertain_significance.
GnomAD3 genomes AF: 0.0000438AC: 1AN: 22848Hom.: 0Cov.: 33
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at