Details for Combination OLI831

VARIANTS GFI1:c.1145A>G, p.Asn382Ser in Heterozygous form; MYO6:c.3526A>C, p.Ile1176Leu in Heterozygous form
GENE COMBINATION GFI1; MYO6
OLIGOGENIC EFFECT Dual Molecular Diagnosis
ETHNICITY Australian
OMIM IDS N.A.
DISEASES Non-syndromic genetic deafness; Severe congenital neutropenia
REFERENCES 32066420
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
22


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