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Results: 2

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:2790111
GRCh38:
Chr11:2768881
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, recessive, Long QT syndrome,
Long QT syndrome, LQT1 subtype
GO-ESP:0.00008(T)Conflicting interpretations of pathogenicity, not provided
(Nov 3, 2014)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr11:2594193
GRCh38:
Chr11:2572963
KCNQ1Cardiac arrhythmia, Long QT syndrome 1, not provided
Conflicting interpretations of pathogenicity
(Apr 3, 2013)
criteria provided, conflicting interpretations