Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions-Reference-Cited by-同舟云学术

Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions

Published:2022-10-02 Issue:12 Volume:43 Page:2054-2062
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Davidson Aimee L.¹²^ORCID,Kondrashova Olga¹,Leonard Conrad¹,Wood Scott¹,Tudini Emma¹³^ORCID,Hollway Georgina E.¹,Pearson John V.¹,Newell Felicity¹,Spurdle Amanda B.¹^ORCID,Waddell Nicola¹²

Affiliation:

1. QIMR Berghofer Medical Research Institute Brisbane Queensland Australia

2. Faculty of Medicine The University of Queensland Brisbane Queensland Australia

3. Australian Genomics Melbourne Victoria Australia

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24468

Reference22 articles.

1. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

2. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

3. Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

4. Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar

5. Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

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