Article

Updated Variant Curation Expert Panel Criteria and Pathogenicity Classifications for 251 Variants for <i>RYR1</i> -related Malignant Hyperthermia Susceptibility

2022-06-25

Abstract excerpt

The ClinGen malignant hyperthermia susceptibility (MHS) variant curation expert panel specified the ACMG/AMP criteria for RYR1 -related MHS and a pilot analysis of 84 variants was published. We have now classified an additional 251 variants for RYR1- related MHS according to current ClinGen standards and updated the criteria where necessary. Criterion PS4 was modified such that individuals with multiple RYR1 va...

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Literature Corpus work: 5aec044d-c28e-566a-9d4d-cd990dbc98d9
DOI: 10.1101/2022.06.23.497341

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