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Items: 4

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:48244792
GRCh38:
Chr17:50167431
SGCALimb-girdle muscular dystrophy, type 2D, not providedGO-ESP:0.00015(A)
GMAF:0.00020(A)
GO-ESP:0.00003(A)
Pathogenic/Likely pathogenic
(Dec 15, 2015)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr17:48245877
GRCh38:
Chr17:50168516
SGCALimb-girdle muscular dystrophy, type 2D, not specifiedGO-ESP:0.00862(T)
GMAF:0.01100(T)
GO-ESP:0.00725(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr17:48247689
GRCh38:
Chr17:50170328
SGCALimb-girdle muscular dystrophy, type 2D, not specifiedGO-ESP:0.09473(T)
GMAF:0.07870(T)
GO-ESP:0.04497(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr17:48252804
GRCh38:
Chr17:50175443
SGCAnot specifiedGO-ESP:0.90492(C)
GMAF:0.07810(T)
Benign
(Nov 24, 2014)
criteria provided, multiple submitters, no conflicts
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