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Items: 2

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:45008570
GRCh38:
Chr17:46931204
GOSR2Progressive myoclonic epilepsy, not specifiedGO-ESP:0.32477(A)
GMAF:0.34610(A)
GO-ESP:0.35101(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr17:45009566
GRCh38:
Chr17:46932200
GOSR2Epilepsy, progressive myoclonic 6, not providedGO-ESP:0.00008(A)Pathogenic
(Nov 30, 2015)
criteria provided, multiple submitters, no conflicts
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