ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile)

gnomAD frequency: 0.00001  dbSNP: rs80356544
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000004889 SCV000041455 not provided Infantile onset spinocerebellar ataxia no assertion provided literature only
OMIM RCV000004889 SCV000025065 pathogenic Infantile onset spinocerebellar ataxia 2007-12-01 no assertion criteria provided literature only

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