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Items: 9

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:88439895
GRCh38:
Chr10:86680138
LDB3Myofibrillar myopathy, ZASP-related, Cardiomyopathy, not specified
GO-ESP:0.01023(T)
GMAF:0.01120(T)
Benign
(Jan 27, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr10:88451649
GRCh38:
Chr10:86691892
LDB3Cardiomyopathy, not specifiedGO-ESP:0.00484(G)
GMAF:0.00620(G)
Benign/Likely benign
(Feb 19, 2015)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr10:88451715
GRCh38:
Chr10:86691958
LDB3Myofibrillar myopathy, ZASP-related, Cardiomyopathy, not specified
GO-ESP:0.01699(G)
GMAF:0.01720(G)
Benign
(Nov 2, 2015)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr10:88466432
GRCh38:
Chr10:86706675
LDB3Cardiomyopathy, not specifiedGO-ESP:0.04990(A)
GMAF:0.05690(A)
Benign
(Aug 18, 2011)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr10:88466442
GRCh38:
Chr10:86706685
LDB3Primary dilated cardiomyopathy, not specifiedGO-ESP:0.00038(G)
GMAF:0.00040(G)
Conflicting interpretations of pathogenicity
(Oct 2, 2015)
criteria provided, conflicting interpretations
6.
GRCh37:
Chr10:88466465
GRCh38:
Chr10:86706708
LDB3Cardiomyopathy, not specifiedGO-ESP:0.02701(T)
GMAF:0.02020(T)
Benign
(Aug 18, 2011)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr10:88476274
GRCh38:
Chr10:86716517
LDB3Myofibrillar myopathy, ZASP-related, Cardiomyopathy, not specified
GO-ESP:0.00200(A)
GMAF:0.00040(A)
Benign/Likely benign
(Mar 10, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr10:88478529
GRCh38:
Chr10:86718772
LDB3Cardiomyopathy, not specifiedGO-ESP:0.02191(A)
GMAF:0.02680(A)
Benign
(Dec 31, 2013)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr10:88486007
GRCh38:
Chr10:86726250
LDB3Primary dilated cardiomyopathy, not specified, not provided
GO-ESP:0.00046(A)
GMAF:0.00040(A)
Conflicting interpretations of pathogenicity
(Oct 2, 2015)
criteria provided, conflicting interpretations
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