ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7665T>G (p.Asp2555Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003990651 SCV004807506 uncertain significance Charlevoix-Saguenay spastic ataxia 2024-03-29 criteria provided, single submitter clinical testing

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