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Modifications to the list of pathogenic and likely pathogenic RYR1 variants

November 05, 2025

New variants

November 05, 2025/ Thierry Girard

The following pathogenic variants have been added:

  • c.1024G>A; p.(Glu342Lys); Pathogenic; criteria: PSb, PPa,PPb,PPc

  • c.6863T>C; p.(Leu2288Ser); Pathogenic; criteria: PSb,PPb,PPc

November 05, 2025/ Thierry Girard/

Thierry Girard

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