Check ClinVar to see if other labs have classified the variant differently. If other well-known clinical laboratories have classified your variant as likely benign or likely pathogenic, you can reach …

When you agreed to have gene testing for gene mutations, you probably were expecting a “yes” or “no” answer. But the result of gene testing is not always a clean “yes” or “no”. In your case, …

The Variant Score, a probability that the variant is pathogenic, is sampled from the posterior predictive distribution of the partially observed Bernoulli variable.

Changes in our genes are known as variants. These may be harmful (pathogenic) or harmless (benign). Every person has thousands of benign variants that do not cause health conditions. …

The laboratory uses computer programs and genetic databases to help figure out if a variant will change how a gene works. But sometimes, there just isn’t enough information to know for sure.

Blueprint Genetics has developed a variant classification system intended to classify variants in dominant monogenic disorders. These are rare diseases caused by single variants in single …

An important part of variant curation is determining whether or not a variant has been found in the general population and at what allele frequency (AF). If a variant is found at a frequency that is …