Showing 1 to 3 of 3 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000540.2(RYR1):c.488G>T (p.Arg163Leu)
Pathogenic
malignant hyperthermia, susceptibility to, 12023-05-22
2.1
-RYR1
View NM_000540.2(RYR1):c.488G>T (p.Arg163Leu)
Pathogenic
malignant hyperthermia, susceptibility to, 12023-04-07
2.0
-RYR1
View NM_000540.2(RYR1):c.488G>T (p.Arg163Leu)
Likely Pathogenic
malignant hyperthermia, susceptibility to, 12021-03-31
1.0
-RYR1
Showing 1 to 3 of 3 rows