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Articles Tagged: VUS
February 26, 2024
From Awareness to Action: Supporting Rare Disease Today and Everyday
For Rare Disease Day, a list of patient advocacy groups dedicated to raising awareness about rare diseases and the millions of individuals around the world…
Advocacy Group
Novel Genes
Patient Advocate
VUS
Whole Exome Sequencing
February 23, 2024
Variant Interpretation in Real Time: Sometimes it Takes a Village
Genetic counselors explain how a CDH1 variant was classified as likely pathogenic from VUS status.
Breast Cancer
Genetic Testing
RNA
Variant of Unknown Significance
VUS
February 21, 2024
A GC’s Perspective on Lab Expertise: Getting Answers After Years of Uncertainty
Genetic counselor Kaitilin Stokes discusses hereditary cancer testing and resolving VUS in CDKN2! and APC genex.
Genetic Counselors
Genetic Testing
Hereditary Cancer
VUS
January 30, 2024
Ambry Collaborations with GeneMatcher Help Further Disease Gene Discovery and Improve Diagnostic Rates
Meghan Towne discusses the partnership of diagnostic laboratories with GeneMatcher to contribute to gene-disease discovery.
Genetic Testing
Genetic Testing Accuracy
Mendelian diseases
VUS
December 19, 2023
The Path to Clinical Relevance: What a Study on RAD51C Reveals about Resolving VUS
Marcy Richardson, PhD discusses variant interpretation, VUS, and recategorizing missense genes with an example from Hu et al’s recent publication on RAD51C.
Genetic Testing
Genetic Testing Accuracy
PALB2
RAD51D
Variant of Unknown Significance
VUS
August 21, 2018
Science In 60: Tumor Characteristics Provide Evidence for Mismatch Repair Variant Pathogenicity
Tumor Characteristics Provide Evidence for Mismatch Repair Variant Pathogenicity By Shuwei Li, Sr. Statistical Geneticist I
Science in 60
VUS
