ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

Human Mutation

DOI: 10.1002/humu.23645 Full text (OA) OpenAlex

Authors 0

Author list not loaded yet.

Cited by 9 stored of 209

Identifying TMEM127-deficient pheochromocytomas/paragangliomas via RET overexpression by immunohistochemistry
2026 The Journal of Clinical Endocrinology & Metabolism article Medicine Adrenal and Paraganglionic Tumors

1

citations
Population and family data support TNNT2 p.Arg288Cys as an intermediate effect variant in hypertrophic cardiomyopathy
2026 International Journal of Cardiology article Medicine Cardiomyopathy and Myosin Studies Open access

0

citations
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS
2024 The American Journal of Human Genetics article Medicine Genetic factors in colorectal cancer Open access

17

citations
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

101

citations
Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel
2024 medRxiv preprint Medicine Genetic factors in colorectal cancer Open access

7

citations
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases
2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

0

citations
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

6

citations
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
2023 Genetics in Medicine article Medicine Genetic factors in colorectal cancer Open access

36

citations
The patient with 41 reports: Analysis of laboratory exome sequencing reporting of a “virtual patient”
2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

3

citations

9 results

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

Authors 0

Cited by 9 stored of 209

References 0