ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1903dup (p.Met635fs)

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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 RCV004698446 SCV005199956 pathogenic Autosomal recessive ataxia, Beauce type 2024-08-26 criteria provided, single submitter clinical testing

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