Invitae’s variant classifications are based on a rigorous, logical, and reproducible assessment of available evidence. Our method of variant interpretation enables us to be comprehensive in our review of the available literature and evidence, transparent in our logic and our conclusions, and clear in our explanations.
Our systematic process adheres closely to the recommendations from the American College of Medical Genetics (ACMG) and was published in Genetics in Medicine, the official journal of ACMG. It represents the industry standard among clinical genetic testing laboratories. Learn more >
Invitae confirms clinically significant findings using orthogonal technologies including Sanger sequencing, PacBio long read sequencing, aCGH, and MLPA.
Additionally, Invitae confirms any reported CNV event by performing aCGH with a custom designed exon-focused microarray. This is the industry standard technique for these events.
We encourage you to ask other testing providers if they confirm all variants and, if so, ask for a description of their complete process.Read the whitepaper
Invitae submits all clinically reported variants, their classifications (i.e., pathogenic, benign, VUS, etc.) and the underlying evidence for and against pathogenicity to ClinVar. The sharing of data through ClinVar is unique in that it allows ongoing:
No other mechanism, including published scientific papers, solves these important problems. We encourage you to ask other testing providers if they share all variants, classifications, and evidence to public databases. Learn more >