ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8596A>G (p.Arg2866Gly)

dbSNP: rs1868466055
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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 RCV001198520 SCV001369486 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-08-20 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.

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