Download white paper: HGMD and ClinVar: Avoiding the Knowledge Blind Spot

In 2008, Christian Millare had a severe seizure and died. He was two years old. His mother was convinced that based on his medical records, the opinions of experts, and the published literature, her son’s life didn’t have to come to such a premature end.

And she was right. In 2017, Christian had a battery of tests, including the sequencing of the SCN1A gene. The lab that performed this genetic test reported that he had a variant of unknown significance (VUS) there.

However, that same SCN1A mutation had been identified in an Australian family in 2006. The lab had failed to find the one publication that could have saved Christian’s life.

Download this white paper to learn how HGMD Professional helps you avoid the knowledge blind spot and enable better care with better knowledge.

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