ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2387del (p.Leu796fs)

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003313827 SCV004012999 pathogenic Charlevoix-Saguenay spastic ataxia 2023-07-17 criteria provided, single submitter clinical testing

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