ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.193G>A (p.Glu65Lys)

dbSNP: rs1554825315
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inherited Neuropathy Consortium RCV000790206 SCV000929598 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
GeneReviews RCV002298772 SCV002588716 not provided Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 no assertion provided literature only

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