ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289200 SCV002579065 likely pathogenic Charlevoix-Saguenay spastic ataxia 2022-04-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481274 SCV004226411 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing PP3, PM2, PM3_supporting
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research RCV002289200 SCV005044602 uncertain significance Charlevoix-Saguenay spastic ataxia 2022-01-01 criteria provided, single submitter research

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