Skip to content
DraconiticResearch
Search Sources API
197,788 studies31 sourcesUpdated 15 min ago
Peer-reviewedLicence not statedGenetics in Medicine

Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)

  • Chloe E. Mighton1
  • Aya Abu‐El‐Haija2
  • Vimla Aggarwal3
  • Yassmine M. N. Akkari4
  • Caroline Astbury5
  • D. Hunter Best6
  • Laura Kathleen Conlin7
  • Steven M. Harrison8
  • Nan Jiang9
  • Paul Stephen Kruszka10
  • Dianalee McKnight11
  • Tiffany T. Nguyen Dolphyn12
4 more authors
  • Farid Barquet Ramos13
  • Christie P. Thomas14
  • Lora Jh Bean15
  • Heidi L. Rehm16
16 affiliations
  1. 1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
  2. 2Harvard Medical School, Boston, MA; Medical Genetics and Genomics Division, Department of Pediatrics, Boston Children's Hospital, Boston, MA
  3. 3Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY
  4. 4The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Departments of Pathology and Pediatrics, The Ohio State University, Columbus, OH
  5. 5Robert J. Tomsich Department of Pathology and Laboratory Medicine, Diagnostics Institute, Cleveland Clinic, Cleveland, OH
  6. 6Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT; ARUP Laboratories, Salt Lake City, UT
  7. 7Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA
  8. 8Ambry Genetics, Aliso Viejo, CA
  9. 9Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA
  10. 10Department of Pediatrics, University of Virginia School of Medicine, Charlottesville, VA
  11. 11Illumina, San Diego, CA
  12. 12Stanford Medicine Clinical Genomics Program, Stanford University School of Medicine, Stanford, CA
  13. 13Center for Cancer Genetics and Prevention, Dana Farber Cancer Institute, Boston, MA
  14. 14Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, IA
  15. 15Revvity Omics, Pittsburgh, PA
  16. 16Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Harvard Medical School, Boston, MA
Open at sourcePDFDOICite

Related

  1. A translational pipeline for classification of variants of uncertain significance to support gene therapy clinical trial in OTOF-related deafness
    Liheng Chen, Min Yao, Honghai Tang +23
    Cell Reports MedicinePeer-reviewedCC BY-NC-ND 4.0Full textNeurosciencePMC
  2. Case Report: ABCC8 variants in Chinese youth: a nine-family case series and a pragmatic three-pillar framework for adjudicating variants of uncertain significance
    Jiahui Chen, Xingwu Zhang, Rongmin Li +4
    Frontiers in EndocrinologyPeer-reviewedCC BY 4.0Full textGenetics & genomicsCrossref
  3. Prognostic impact of variants of uncertain significance (VUS) in BRCA genes and homologous recombination repair (HRR) genes in prostate cancer: a real-world multicenter study.
    Marianna Garofoli, Maria Iole Natalicchio, Giuseppina Bruno +27
    BMC medicinePeer-reviewedCC BY-NC-NDFull textGenetics & genomicsEurope PMCPMC
  4. Blended Phenotype Involving FBN1 and Novel PIGL Variants of Uncertain Significance: A Prenatal Case Report
    Mitul Suhane, Chandrashekhar Shrivastava, Vinita Singh
    Annals of African MedicinePeer-reviewedCC BY-NC-SA 4.0Full textGenetics & genomicsPMC
  5. Phenotypic Evidence for the Reclassification of the RYR1 p.(Glu4410Asp) Variant: From Uncertain Significance to Likely Benign.
    Isabella Mullally, Eugene Smith, Peter Bedocs +5
    GenesPeer-reviewedCC BYFull textGenetics & genomicsEurope PMC

Cite

BibTeXRIS
BibTeX
@article{mighton2026points,
  title = {{Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)}},
  author = {Chloe E. Mighton and Aya Abu‐El‐Haija and Vimla Aggarwal and Yassmine M. N. Akkari and Caroline Astbury and D. Hunter Best and Laura Kathleen Conlin and Steven M. Harrison and Nan Jiang and Paul Stephen Kruszka and Dianalee McKnight and Tiffany T. Nguyen Dolphyn and Farid Barquet Ramos and Christie P. Thomas and Lora Jh Bean and Heidi L. Rehm},
  journal = {Genetics in Medicine},
  year = {2026},
  month = jun,
  doi = {10.1016/j.gim.2026.102583},
  url = {https://doi.org/10.1016/j.gim.2026.102583},
}
RIS
TY  - JOUR
TI  - Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)
AU  - Chloe E. Mighton
AU  - Aya Abu‐El‐Haija
AU  - Vimla Aggarwal
AU  - Yassmine M. N. Akkari
AU  - Caroline Astbury
AU  - D. Hunter Best
AU  - Laura Kathleen Conlin
AU  - Steven M. Harrison
AU  - Nan Jiang
AU  - Paul Stephen Kruszka
AU  - Dianalee McKnight
AU  - Tiffany T. Nguyen Dolphyn
AU  - Farid Barquet Ramos
AU  - Christie P. Thomas
AU  - Lora Jh Bean
AU  - Heidi L. Rehm
PY  - 2026
DA  - 2026/06/12
JO  - Genetics in Medicine
DO  - 10.1016/j.gim.2026.102583
UR  - https://doi.org/10.1016/j.gim.2026.102583
SN  - 1098-3600
SN  - 1530-0366
ER  -