ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.1798dup (p.Ser600fs)

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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 RCV002308492 SCV002600232 pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2022-11-14 criteria provided, single submitter clinical testing

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