Table 1 Pathogenic and likely pathogenic RYR1 variants in the Singapore population.

From: Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population

  1. Both ClinVar and InterVar classifications are included in this table. (Orange: defined as pathogenic in this study; Blue: defined as likely pathogenic in this study).
  2. *Not found in ClinVar.
  3. **Conflicting refers to when different submitters assign different clinical significance to a variant. This includes variants which have the following combination of classifications from different submitters: 1. (Pathogenic or Likely pathogenic or Benign or Likely benign) AND Uncertain significance. 2. (Pathogenic or Likely pathogenic) AND (Benign or Likely benign).
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