ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1296G>T (p.Leu432Phe)

gnomAD frequency: 0.00001  dbSNP: rs1382315425
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336024 SCV001529301 uncertain significance Infantile onset spinocerebellar ataxia 2018-05-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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