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Items: 4

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:49548225
GRCh38:
Chr3:49510792
DAG1not specifiedGMAF:0.00120(C)
GO-ESP:0.00289(C)
Conflicting interpretations of pathogenicity
(May 26, 2015)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr3:49548226
GRCh38:
Chr3:49510793
DAG1not specifiedGO-ESP:0.00823(G)
GMAF:0.00560(G)
GO-ESP:0.00725(G)
Likely benigncriteria provided, single submitter
3.
GRCh37:
Chr3:49570009
GRCh38:
Chr3:49532576
DAG1not specifiedGO-ESP:0.00002(T)Uncertain significance
(Mar 9, 2015)
criteria provided, single submitter
4.
GRCh37:
Chr3:49570200
GRCh38:
Chr3:49532767
DAG1not specified, not providedGO-ESP:0.30563(T)
GMAF:0.21590(T)
GO-ESP:0.27755(T)
Benign/Likely benign, not provided
(Oct 29, 2014)
criteria provided, multiple submitters, no conflicts
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