ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9590del (p.Ser3197fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004576162 SCV005051951 likely pathogenic Charlevoix-Saguenay spastic ataxia 2024-02-01 criteria provided, single submitter curation

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