Last Updated: 09/26/2026
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Found 17 publications
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.
Journal: Genetics in medicine open
Published: October 22, 2024
Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease.
Journal: American journal of medical genetics. Part A
Published: December 21, 2023
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Journal: medRxiv : the preprint server for health sciences
Published: March 03, 2023
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Journal: American journal of human genetics
Published: February 20, 2023
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 25, 2021
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 18, 2019
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 22, 2019
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
Journal: American journal of human genetics
Published: March 06, 2019
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Journal: Human mutation
Published: May 02, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Journal: Human mutation
Published: April 30, 2018
Reclassification of the BRAF p.Ile208Val variant by case-level data sharing.
Journal: Cold Spring Harbor molecular case studies
Published: January 30, 2018
Last Updated: 09/26/2026