Health AI Central
Peer-Reviewed Publication
Anim Genet2026;57(5):e70197.October 1, 2026Journal Article

The Animal Variant Classification Guidelines v2: An Update With New Criteria and Improved Clarifications.

Lore Desmet1,2, Carlotta Ferrari3, Marie Abitbol4,5, Heidi Anderson1,6, Danika Bannasch7, Hubert Bauer8, Jerold Bell9, Nüket Bilgen10, Lucie Chevallier11, Caroline Dufaure de Citres12, Jonas Donner13, Carrie J Finno7, Guillermo Giovambattista14, Steven M Harrison15, Jessica J Hayward16, Jens Häggström17, Jason T Huff6, Tosso Leeb18, Ingrid Ljungvall17, Maria Longeri3, Leslie A Lyons19, Marcela Martinez20, Cathryn Mellersh21, Frank W Nicholas22, Åsa Ohlsson23, Jessica L Petersen24, Pascale Smets25, Maria G Strillacci3, Imke Tammen26, Samantha Van Buren27, Frank G van Steenbeek28, Bart J G Broeckx1,2
1Laboratory of Animal Genetics, Department of Veterinary and Biosciences, Faculty of Veterinary Medicine, Ghent University, Merelbeke-Melle, Belgium.
2Center of Clinical Genetics for Companion Animals, Faculty of Veterinary Medicine, Ghent University, Merelbeke-Melle, Belgium.
3Department of Veterinary Medicine and Animal Sciences, University of Milan, Lodi, Italy.
4VetAgro Sup, Univ. Lyon, Marcy-l'Etoile, France.
5Institut NeuroMyoGène INMG-PGNM, CNRS UMR5261, INSERM U1315, Faculté de Médecine, Rockefeller, Université Claude Bernard Lyon 1, Lyon, France.
6Wisdom Panel, Mars Petcare Science & Diagnostics, Fountain Valley, California, USA.
7Department of Population Health and Reproduction, University of California Davis School of Veterinary Medicine, Davis, California, USA.
8Laboklin GmbH & Co. KG, Bad Kissingen, Germany.
9Department of Clinical Sciences, Cummings School of Veterinary Medicine, Tufts University, North Grafton, Massachusetts, USA.
10GeneControl GmbH, Grub, Germany.
11U955-IMRB, Team 10-Biology of the Neuromuscular System, Institut National de la Santé et de la Recherche Médicale, Ecole Nationale Vétérinaire d'Alfort, Maisons-Alfort, France.
12Antagene-Animal Genomics Laboratory, La Tour de Salvagny, France.
13GenomeTails Pet Genetic Counselling and Consulting Services, Espoo, Finland.
14Institute of Veterinary Genetics (IGEVET, UNLP-CONICET), Faculty of Veterinary Sciences, National University of La Plata, La Plata, Argentina.
15Ambry Genetics, Aliso Viejo, California, USA.
16Department of Biomedical Sciences and Cornell Veterinary Biobank, College of Veterinary Medicine, Cornell University, Ithaca, New York, USA.
17Department of Clinical Sciences, Faculty of Veterinary Medicine and Animal Science, Swedish University of Agricultural Sciences, Uppsala, Sweden.
18Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
19Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, Missouri, USA.
20Applied Genetics Laboratory, Sociedad Rural Argentina, Buenos Aires, Argentina.
21Department of Veterinary Medicine, Canine Genetics Centre, University of Cambridge, Cambridge, UK.
22Sydney School of Veterinary Science, Faculty of Science, The University of Sydney, Sydney, Australia.
23Department of Animal Biosciences, Faculty of Veterinary Medicine and Animal Science, Swedish University of Agricultural Sciences, Uppsala, Sweden.
24Department of Animal Science, University of Nebraska-Lincoln, Lincoln, Nebraska, USA.
25Small Animal Department, Faculty of Veterinary Medicine, Ghent University, Merelbeke-Melle, Belgium.
26Sydney School of Veterinary Science, Faculty of Science, The University of Sydney, Camden, Australia.
27Orivet Genetic Pet Care, Knoxville, Tennessee, USA.
28Department of Clinical Sciences, Faculty of Veterinary Medicine, Utrecht University, Utrecht, the Netherlands.
PubMed DOI

Abstract

The Animal Variant Classification Guidelines (AVCG) were developed to standardize and objectify the classification of putative disease-causing variants. These guidelines are sufficiently reproducible and are used to classify previously published and new disease-causing variants across species. Here, the guidelines are updated (AVCG.v2), based on a three-phase decision process. Overall, four new cr…

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