ClinVar is increasingly used as a resource for both genetic variant interpretation and clinical practice. However, controversies exist regarding the consistency of classifications in ClinVar, and ...

The Alzforum Mutations database has upped its game. This repository includes rap sheets on more than 500 variants in the three autosomal-dominant Alzheimer’s disease genes amyloid precursor protein ...

An international workgroup of genetics and cancer experts convened by the American College of Medical Genetics and Genomics (ACMG) has published a highly anticipated and detailed clinical practice ...

In addition, knowledge of discordant classifications or receipt of erroneous pathogenic classifications may cause unnecessary patient anxiety. This may also extend to family members when testing is ...

A study published in The Oncologist concluded that discrepant variant classification in public databases can introduce uncertainty and diminish patient care. Can we trust gene variant information ...

The American College of Medical Genetics and Genomics (ACMG) has released updated recommendations for CFTR carrier screening: "Updated recommendations for CFTR carrier screening: A position statement ...

Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study The use of the American College of Medical Genetics and Genomics and the Association for Molecular ...

Additionally, pathogenic and benign variants can co-exist in almost every disease-associated gene. As such, gaining a better understanding of the mechanistic differences between benign and pathogenic ...

It has been nearly two decades since the American College of Medical Genetics and Genomics (ACMG), together with the American College of Obstetricians and Gynecologists, made the landmark ...

Genetic risk models, including PREMMplus and BOADICEA/CanRisk, refine breast cancer risk assessment by incorporating genetic status and polygenic risk scores. Challenges in classifying gene variants, ...