ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2018dup (p.Asn673fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research RCV004818512 SCV005061932 likely pathogenic Charlevoix-Saguenay spastic ataxia 2022-01-01 criteria provided, single submitter research

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