Details for Combination OLI123

VARIANTS MYH7B:c.2668C>T, p.Arg890Cys in Homozygous form; ITGA7:c.2644G>A, p.Glu882Lys in Homozygous form
GENE COMBINATION ITGA7; MYH7B
OLIGOGENIC EFFECT Dual Molecular Diagnosis
ETHNICITY European/Caucasian
OMIM IDS 255310; 613426; 615396; 615092; 601493; 300580; 601494; 609470; 613424; 611878; 617760; 604169; 615373
DISEASES Congenital fiber-type disproportion myopathy; Left ventricular noncompaction
REFERENCES 23800289
SCORES
FAMmanual
3

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
33


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