MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database.

Lamia AlsubaieRanda AlkhalafTaghrid AlorainiManal AmoudiAbdulrahman SwaidFuad Al MutairiMajid AlfadhelWafaa EyaidWafaa SewairiAhmed Alfares

Published in: Annals of human genetics (2020)

Conflicting evidence about variants creates challenges for testing laboratories and impacts patient care. Sharing information drawn mainly from underrepresented populations and clinical phenotyping are important tools for precise curation of genetic variants.

Keyphrases

health information
high throughput
copy number
social media
healthcare
emergency department
gene expression
genetic diversity
dna methylation
single cell
drug induced