Invitae Variant Interpretations

Invitae has provided high quality clinical grade genetic information to millions of patients. This data set shares our most up-to-date variant interpretations from variants we have encountered during clinical testing. It can be used as training data for variant interpretation algorithms, help to prioritize genes for additional study, or be used to investigate the clinical significance of specific genetic variants.

Samples/Tables Included:
- INTERPRETATION

Fields Included:
- Gene name
- Transcript
- Variant (HGVS c. name)
- Protein effect (pname)
- Clinical significance
- Variant Details

搜集汇总

背景与挑战

背景概述

该数据集包含Invitae在临床基因测试中获取的最新变异解读信息，涵盖基因名称、变异描述和临床意义等关键字段。它可用于训练变异解读算法、辅助基因研究或调查特定变异的临床相关性。