P255: Using VariantMatcher to facilitate variant classification in populations underrepresented in public databases

VariantMatcher (variantmatcher.org) is a freely available web-based tool designed to connect patients, their families, clinicians, and researchers worldwide who are interested in a specific variant. It enables the sharing of de-identified variant-level, phenotypic, and zygosity data from research participants to facilitate the classification and discovery of novel disease-causing variants and genes. The database contains rare (MAF < 1% in gnomAD), nonsynonymous single-nucleotide variants (SNVs) and indels (< 50 bp) identified in 6,827 VCF files (950,855 unique variants) of affected and unaffected individuals sequenced as part of multiple research projects, along with their phenotypic information.