ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) (rs121434379)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002382 SCV000022540 pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2006-12-12 no assertion criteria provided literature only

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