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Items: 5

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:2224511
GRCh38:
Chr12:2115345
CACNA1CCardiac arrhythmia, Long QT syndrome, not specified
GO-ESP:0.01723(T)
GMAF:0.01180(T)
Benign
(Mar 28, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr12:2229476
GRCh38:
Chr12:2120310
CACNA1CCardiac arrhythmiaGMAF:0.02540(A)Benign
(Aug 18, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr12:2795023
GRCh38:
Chr12:2685857
CACNA1C, CACNA1C-AS1Cardiac arrhythmia, not specifiedGO-ESP:0.01724(T)
GMAF:0.01600(T)
Benign
(Apr 29, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr12:2797859
GRCh38:
Chr12:2688693
CACNA1C, CACNA1C-AS1Cardiac arrhythmiaLikely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr12:2800255
GRCh38:
Chr12:2691089
CACNA1C, CACNA1C-AS1Cardiac arrhythmia, not specifiedConflicting interpretations of pathogenicity
(Apr 10, 2013)
criteria provided, conflicting interpretations
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