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 Mighton; Aya Abu-El-Haija; Vimla Aggarwal; Yassmine M.N. Akkari; Caroline Astbury; D. Hunter Best; Laura K. Conlin; Steven M. Harrison; Nan Jiang; Paul Kruszka; Dianalee McKnight; Tiffany T. Nguyen Dolphyn; Farid Barquet Ramos; Christie P. Thomas; Lora J.H. Bean; Heidi L. Rehm; Laboratory Quality Assurance Committee

doi:10.1016/j.gim.2026.102583

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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)

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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 Mighton, Aya Abu-El-Haija, Vimla Aggarwal, Yassmine M.N. Akkari, Caroline Astbury, D. Hunter Best, Laura K. Conlin, Steven M. Harrison, Nan Jiang, Paul Kruszka, …

Genetics in medicine, 102583

06/12/2026

DOI: 10.1016/j.gim.2026.102583

PMID: 42287277

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Abstract

no abstract

Cytogenetics

Molecular Genetics

Clinical genetic and genomic testing

Reporting

Variants of uncertain significance

Details

Title: Subtitle: 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)
Creators: Chloe Mighton - Broad Institute
Aya Abu-El-Haija - Boston Children's Hospital
Vimla Aggarwal - Columbia University Irving Medical Center
Yassmine M.N. Akkari - Nationwide Children's Hospital
Caroline Astbury - Cleveland Clinic
D. Hunter Best - ARUP Laboratories (United States)
Laura K. Conlin - Children's Hospital of Philadelphia
Steven M. Harrison - Ambry Genetics (United States)
Nan Jiang - Cedars-Sinai Medical Center
Paul Kruszka - University of Virginia
Dianalee McKnight - Illumina (United States)
Tiffany T. Nguyen Dolphyn - Stanford University School of Medicine
Farid Barquet Ramos - Dana-Farber Cancer Institute
Christie P. Thomas - University of Iowa
Lora J.H. Bean - Revvity Omics, Pittsburgh, PA
Heidi L. Rehm - Broad Institute
Laboratory Quality Assurance Committee
Resource Type: Journal article
Publication Details: Genetics in medicine, 102583
DOI: 10.1016/j.gim.2026.102583
PMID: 42287277
NLM abbreviation: Genet Med
ISSN: 1098-3600
eISSN: 1530-0366
Publisher: Elsevier Inc
Language: English
Electronic publication date: 06/12/2026
Academic Unit: Stead Family Department of Pediatrics; Obstetrics and Gynecology; Nephrology; Internal Medicine
Record Identifier: 9985175468402771

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