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[Preprint]. 2024 Nov 20:2024.11.19.24317561. [Version 1] doi: 10.1101/2024.11.19.24317561

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Figure 1. — (A) Summary of lumping and splitting decisions for the 38 precurations performed to date. (B) Summary of the final classifications for the 111 approved GDR classifications to date. (C) Summary of mode of inheritance of the 111 approved GDRs to date. (D) Summary of final classifications for GDRs across the five curation approaches. Approach 1 (38 genes - GDRs most frequently tested in clinical laboratories): 33 Definitive, 1 Strong, 2 Moderate, 2 Limited; Approach 2 (47 genes - GDRs through clinical genome or exome sequencing performed by diagnostic laboratories within the membership of the SD-GCEP): 33 Definitive, 4 Strong, 6 Moderate, 5 Limited; Approach 3 (14 genes - new GDRs from research consortia including NHGRI’s Centers of Mendelian Genomics and GREGoR consortium): 5 Definitive, 3 Strong, 4 Moderate, 2 Limited; Approach 4 (7 genes - GDRs requested by other GCEPs for phenotypes requiring the broad expertise of the SD-GCEP): 4 Definitive, 3 Moderate; Approach 5 (4 genes as of March 2024 - syndromic GDRs in GenCC with Strong or Definitive classifications not curated by other GCEPs): 3 Definitive, 1 Strong.

Figure 1. — (A) Summary of lumping and splitting decisions for the 38 precurations performed to date. (B) Summary of the final classifications for the 111 approved GDR classifications to date. (C) Summary of mode of inheritance of the 111 approved GDRs to date. (D) Summary of final classifications for GDRs across the five curation approaches. Approach 1 (38 genes - GDRs most frequently tested in clinical laboratories): 33 Definitive, 1 Strong, 2 Moderate, 2 Limited; Approach 2 (47 genes - GDRs through clinical genome or exome sequencing performed by diagnostic laboratories within the membership of the SD-GCEP): 33 Definitive, 4 Strong, 6 Moderate, 5 Limited; Approach 3 (14 genes - new GDRs from research consortia including NHGRI’s Centers of Mendelian Genomics and GREGoR consortium): 5 Definitive, 3 Strong, 4 Moderate, 2 Limited; Approach 4 (7 genes - GDRs requested by other GCEPs for phenotypes requiring the broad expertise of the SD-GCEP): 4 Definitive, 3 Moderate; Approach 5 (4 genes as of March 2024 - syndromic GDRs in GenCC with Strong or Definitive classifications not curated by other GCEPs): 3 Definitive, 1 Strong.