Fig. 4: Comparison of classification results between Sherloc and American College of Medical Genetics and Genomics–Association for Molecular Pathology (ACMG-AMP) or ClinVar or Leiden Open Variation Database (LOVD). | Genetics in Medicine

Fig. 4: Comparison of classification results between Sherloc and American College of Medical Genetics and Genomics–Association for Molecular Pathology (ACMG-AMP) or ClinVar or Leiden Open Variation Database (LOVD).

From: Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc

Fig. 4

(a) Classification results are expressed in percentages of total number of variants (Sherloc and ACMG-AMP; n = 286) or total number of variants for which a ClinVar or LOVD interpretation was found (ClinVar: n = 237; LOVD: n = 38). The remaining 3% of ClinVar interpretations are conflicting. (b) Concordance (C) was the highest between Sherloc and ACMG-AMP results. Conversely, most discordance (D) was observed between Sherloc and ClinVar results. (c) For the discordant results the contribution of each type of conflict was expressed as a percentage of total discordant results. B benign, C1 class 1, C2 class 2, C3 class 3, C4 class 4, C5 class 5, LB likely benign, LP likely pathogenic, P pathogenic, VUS variant of uncertain significance.

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