The Monogenic Diabetes Expert Panel will develop a sustainable process for systematic consensus review for pathogenicity and submission to ClinVar of MODY, neonatal diabetes genes, Wolfram syndrome, mitochondrial diabetes and other syndromic genes agreed upon by consensus.
Please contact a coordinator if you have questions.
Ruth Cosentino, MS, MT ASCP
rcosenti@som.umaryland.edu
Ruth Cosentino, MS, MT ASCP
rcosenti@som.umaryland.edu
A systematic process of evaluating evidence to classify a genomic variant on a spectrum from pathogenic to benign with respect to a particular disease and inheritance pattern.