ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4718T>G (p.Met1573Arg)

dbSNP: rs2137625077
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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 RCV001391618 SCV001451178 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 RCV001391618 SCV005061965 pathogenic Charlevoix-Saguenay spastic ataxia 2022-01-01 criteria provided, single submitter research

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