Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The variant allele was found at a frequency of 0.284 in 152006 control chromosomes in the gnomAD Genomes database, including 7472 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Verdict is Benign. Variant got -14 ACMG points.
GnomAD3 genomes AF: 0.284AC: 43152AN: 152006Hom.: 7472Cov.: 33
Submissions by phenotype
|Benign, criteria provided, single submitter||clinical testing||GeneDx||Nov 12, 2018||This variant is associated with the following publications: (PMID: 22537748, 21672939, 22028838, 29372577, 25595174, 29985710, 23778030) -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at