New variants

The list of (likely) pathogenic variants has been updated. The following changes have been made and lead to 5 new (likely) pathogenic variants:

New variant

c.1390C>A; p.(Gln464Lys); NM_000540.3(RYR1):c.5132A>G p.(Gln464Lys)
EMHG pathogenic, VCEP: likely pathogenic

Updated variants

c.7060G>A; p.(Val2354Met): EMHG changed from VUS to pathogenic
c.7292A>T; p.(Asp2431Val): EMHG changed from VUS to pathogenic
c.7879G>C; p.(Val2627Leu): EMHG changed from VUS to pathogenic
c.8189A>G; p.(Asp2730Gly): EMHG changed from VUS to likely pathogenic
c.14918C>T; p.(Pro4973Leu): EMHG changed from likely pathogenic to pathogenic