Construct · 1 fields · 1 citations

ACMG/ClinGen CNV classification: a standalone construct

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ACMG/ClinGen CNVclassification1 CONSTRUCTACMG/ClinGen CNVRIGGS · MEDICAL GENETICS

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Medical genetics

a points-based framework for classifying constitutional copy-number variants from pathogenic to benign using genomic content, dosage evidence and case data.

In medical genetics, ACMG/ClinGen CNV classification refers to a points-based framework for classifying constitutional copy-number variants from pathogenic to benign using genomic content, dosage evidence and case data. This meaning comes from Riggs (2020) in Genetics in Medicine.[1]

Unit
Recovery means
Measured by

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Nearby constructs

case2 fields · 3 citationsjingle · one word, two constructsevidence2 fields · 4 citationsjingle · one word, two constructs

References

  1. Riggs, E. R., Andersen, E. F., Cherry, A. M., Kantarci, S., Kearney, H., Patel, A., Raca, G., Ritter, D. I., South, S. T., Thorland, E. C., Pineda-Alvarez, D., Aradhya, S., & Martin, C. L. (2020). 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). Genetics in Medicine, 22(2), 245-257. https://doi.org/10.1038/s41436-019-0686-8

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