ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2775A>G (p.Ala925=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004759675 SCV005368496 uncertain significance Charlevoix-Saguenay spastic ataxia 2024-02-19 criteria provided, single submitter clinical testing

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