ClinVar Miner

Submissions for variant NG_008317.3(FGF14):g.245719CTT[349]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Research; Murdoch Childrens Research Institute RCV002508353 SCV002576522 pathogenic Cerebellar ataxia no assertion criteria provided case-control Expansion of the GAA short tandem repeat beyond 335 copies was associated with late onset ataxia. [P-value 6.0x10-8, OR 72 (95% CI=4.3-1227)],

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