ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13948C>T (p.Arg4650Ter)

dbSNP: rs866163858
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195933 SCV001366357 pathogenic Autosomal recessive ataxia, Beauce type 2019-01-10 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3.

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