MOESM2 of Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

Additional file 2: Specific instance of assay literature curation results. Table S1. Summary of CDH1 variant-level curation. Table S2. Summary of CDH1 specific instance-level curation. Table S3. Comparison of CDH1 functional assay findings to variant evidence in ClinVar. Table S4. Summary of Hearing Loss variant-level curation. Table S5. Summary of Hearing Loss specific instance-level curation. Table S6. Summary of Inherited Cardiomyopathy (MYH7) variant-level curation. Table S7. Summary of Inherited Cardiomyopathy (MYH7) specific instance-level curation. Table S8. Summary of PAH variant-level curation. Table S9. Summary of PAH specific instance-level curation. Table S10. Summary of PTEN variant-level curation. Table S11. Summary of PTEN specific instance-level curation. Table S12. Summary of RASopathy variant-level curation. Table S13. Summary of RASopathy specific instance-level curation.

附加文件2：检测文献整理结果的具体实例。表S1：CDH1基因变异水平整理结果汇总。表S2：CDH1基因检测实例水平整理结果汇总。表S3：CDH1基因功能检测结果与ClinVar数据库（ClinVar）中的变异证据对比。表S4：听力损失相关基因变异水平整理结果汇总。表S5：听力损失相关基因检测实例水平整理结果汇总。表S6：遗传性心肌病（MYH7型）变异水平整理结果汇总。表S7：遗传性心肌病（MYH7型）检测实例水平整理结果汇总。表S8：肺动脉高压（PAH）变异水平整理结果汇总。表S9：肺动脉高压（PAH）检测实例水平整理结果汇总。表S10：PTEN基因变异水平整理结果汇总。表S11：PTEN基因检测实例水平整理结果汇总。表S12：RAS病（RASopathy）变异水平整理结果汇总。表S13：RAS病（RASopathy）检测实例水平整理结果汇总。