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Article

Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.

Human molecular genetics - 28 Nov 2022

Johnston Jennifer J, Dirksen Robert T, Girard Thierry, Hopkins Phil M, Kraeva Natalia, Ognoon Mungunsukh, Radenbaugh K Bailey, Riazi Sheila, Robinson Rachel L, Saddic Iii Louis A, Sambuughin Nyamkhishig, Saxena Richa, Shepherd Sarah, Stowell Kathryn, Weber James, Yoo Seeley, Rosenberg Henry, Biesecker Leslie G

Abstract excerpt

The ClinGen malignant hyperthermia susceptibility (MHS) variant curation expert panel specified the American College of Medical Genetics and Genomics/Association of Molecular Pathologists (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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35849058
DOI: 10.1093/hmg/ddac145
PMCID: PMC9703808

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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