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Results: 6

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:32945646
GRCh38:
Chr12:32792712
PKP2Arrhythmogenic right ventricular cardiomyopathy, type 9, not providedPathogenic/Likely pathogenic
(Oct 7, 2014)
criteria provided, single submitter
2.
GRCh37:
Chr12:33031395
GRCh38:
Chr12:32878461
PKP2Arrhythmogenic right ventricular cardiomyopathy, not specified, not provided
GO-ESP:0.00200(A)
GMAF:0.00120(A)
Conflicting interpretations of pathogenicity
(Jan 12, 2015)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr12:33003807
GRCh38:
Chr12:32850873
PKP2Arrhythmogenic right ventricular cardiomyopathy, type 9Likely pathogenic
(May 18, 2009)
no assertion criteria provided
4.
GRCh37:
Chr6:7578093
GRCh38:
Chr6:7577860
DSPArrhythmogenic right ventricular cardiomyopathy, type 8Likely pathogenic
(Aug 17, 2009)
no assertion criteria provided
5.
GRCh37:
Chr12:32949042
GRCh38:
Chr12:32796108
PKP2Arrhythmogenic right ventricular cardiomyopathy, type 9, Arrhythmogenic right ventricular cardiomyopathy, not provided
GMAF:0.00020(T)Pathogenic/Likely pathogenic
(Nov 10, 2014)
criteria provided, single submitter
6.
GRCh37:
Chr12:32955491
GRCh38:
Chr12:32802557
PKP2Arrhythmogenic right ventricular cardiomyopathy, type 9, Arrhythmogenic right ventricular cardiomyopathy, not provided
Pathogenic/Likely pathogenic
(Nov 25, 2014)
criteria provided, multiple submitters, no conflicts

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