ClinVar Miner

Submissions for variant NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter)

dbSNP: rs1554902760
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000578457 SCV000680119 likely pathogenic Autosomal recessive spinocerebellar ataxia 17 2016-06-19 no assertion criteria provided clinical testing

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