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Understanding genetic variants of uncertain significance

Published:2021-09-13 Issue: Volume: Page:
ISSN:1205-7088
Container-title:Paediatrics & Child Health
language:en
Short-container-title:

Author:

Joynt Alyssa C M¹,Axford Michelle M²³,Chad Lauren⁴⁵,Costain Gregory¹⁴⁵^ORCID

Affiliation:

1. Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada

2. Division of Genome Diagnostics, The Hospital for Sick Children, Toronto, Ontario, Canada

3. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada

4. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada

5. Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada

Publisher

Oxford University Press (OUP)

Subject

Pediatrics, Perinatology, and Child Health

Link

http://academic.oup.com/pch/advance-article-pdf/doi/10.1093/pch/pxab070/40352638/pxab070.pdf

Reference6 articles.

1. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

2. Technical standards for the interpretation and reporting of constitutional copy-number variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen);Riggs;Genet Med,2020

3. Genetic misdiagnoses and the potential for health disparities;Manrai;N Engl J Med,2016

4. Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar;Harrison;Genome Med,2019

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1. Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort;Prenatal Diagnosis;2024-09-05

2. A retrospective review of reclassification of Variants of Uncertain Significance in a pediatric epilepsy cohort undergoing genetic panel testing.;Pediatric Neurology;2024-09

3. Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies;Investigative Ophthalmology & Visual Science;2024-08-01

4. Culture‐acquired genetic variation in human pluripotent stem cells: Twenty years on;BioEssays;2024-06-14

5. Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management;Kidney International Reports;2024-05

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