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Items: 3

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:169437890
GRCh38:
Chr1:169468652
SLC19A2Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness, not specified, Thiamine-responsive megaloblastic anemia
GO-ESP:0.02107(T)
GMAF:0.02100(T)
GO-ESP:0.00657(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr1:169438025
GRCh38:
Chr1:169468787
SLC19A2Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness, not specified, Thiamine-responsive megaloblastic anemia
GO-ESP:0.00008(G)
GMAF:0.02360(G)
GO-ESP:0.00789(G)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr1:169455008
GRCh38:
Chr1:169485770
SLC19A2Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness, not specified, Thiamine-responsive megaloblastic anemia
GO-ESP:0.10630(A)
GMAF:0.19750(A)
GO-ESP:0.22343(A)
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
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