Details for Combination OLI254

VARIANTS ADGRV1:c.3022+2T>G, in Heterozygous form; PDZD7:c.76_77del, p.Ser26LeufsTer53 in Heterozygous form
GENE COMBINATION ADGRV1; PDZD7
OLIGOGENIC EFFECT True Digenic
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Non-syndromic genetic deafness
REFERENCES 25719458
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
3303

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
22


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