ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4724G>C (p.Arg1575Pro)

dbSNP: rs764992284
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001391619 SCV001451179 pathogenic Charlevoix-Saguenay spastic ataxia criteria provided, single submitter clinical testing
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research RCV001391619 SCV005061972 pathogenic Charlevoix-Saguenay spastic ataxia 2022-01-01 criteria provided, single submitter research

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