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Items: 15

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:56078872
GRCh38:
Chr12:55685088
ITGA7not specifiedGO-ESP:0.00485(A)
GMAF:0.00240(A)
Benign/Likely benign
(Dec 17, 2013)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr12:56081794
GRCh38:
Chr12:55688010
ITGA7not specifiedGO-ESP:0.01822(G)
GMAF:0.01700(G)
Likely benignno assertion criteria provided
3.
GRCh37:
Chr12:56082012
GRCh38:
Chr12:55688228
ITGA7not specifiedGO-ESP:0.01576(G)
GMAF:0.01360(G)
Likely benignno assertion criteria provided
4.
GRCh37:
Chr12:56082025
GRCh38:
Chr12:55688241
ITGA7not specifiedGO-ESP:0.05244(C)
GMAF:0.04430(C)
Likely benignno assertion criteria provided
5.
GRCh37:
Chr12:56086936
GRCh38:
Chr12:55693152
ITGA7not specifiedGMAF:0.00280(C)Likely benign
(Oct 14, 2014)
criteria provided, single submitter
6.
GRCh37:
Chr12:56087912
GRCh38:
Chr12:55694128
ITGA7not specifiedGO-ESP:0.02314(T)
GMAF:0.01900(T)
Benign/Likely benign
(Jul 26, 2013)
criteria provided, single submitter
7.
GRCh37:
Chr12:56089344
GRCh38:
Chr12:55695560
ITGA7not specifiedGO-ESP:0.01845(G)
GMAF:0.00980(G)
Benign/Likely benign
(Jan 10, 2013)
criteria provided, single submitter
8.
GRCh37:
Chr12:56089357
GRCh38:
Chr12:55695573
ITGA7not specifiedGO-ESP:0.45133(T)
GMAF:0.40060(C)
Benign
(Aug 20, 2013)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr12:56090803
GRCh38:
Chr12:55697019
ITGA7not specifiedGO-ESP:0.01907(A)
GMAF:0.01700(A)
Likely benignno assertion criteria provided
10.
GRCh37:
Chr12:56092271
GRCh38:
Chr12:55698487
ITGA7Muscular dystrophy, congenital, due to ITGA7 deficiencyPathogenic
(Nov 5, 2013)
criteria provided, single submitter
11.
GRCh37:
Chr12:56092668
GRCh38:
Chr12:55698884
ITGA7not specifiedGO-ESP:0.03852(T)
GMAF:0.01560(T)
Benign/Likely benign
(Mar 15, 2013)
criteria provided, single submitter
12.
GRCh37:
Chr12:56092682
GRCh38:
Chr12:55698898
ITGA7not specifiedGO-ESP:0.05943(T)
GMAF:0.03490(T)
Benign/Likely benign
(Nov 29, 2012)
criteria provided, single submitter
13.
GRCh37:
Chr12:56092708
GRCh38:
Chr12:55698924
ITGA7not specifiedGMAF:0.00280(A)Likely benign
(Oct 14, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr12:56094948
GRCh38:
Chr12:55701164
ITGA7not specifiedGO-ESP:0.07227(A)
GMAF:0.02560(A)
Benign/Likely benign
(Sep 20, 2012)
criteria provided, single submitter
15.
GRCh37:
Chr12:56096884
GRCh38:
Chr12:55703100
ITGA7not specifiedGO-ESP:0.02030(A)
GMAF:0.01180(A)
Likely benignno assertion criteria provided
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