ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.5431C>T (p.Arg1811Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV004820966 SCV005441765 uncertain significance Spinocerebellar ataxia type 5 2025-01-02 criteria provided, single submitter clinical testing ACMG: PP2, BP4

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