ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5385dup (p.Gly1796fs)

dbSNP: rs2128938102
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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 RCV001823317 SCV002072645 pathogenic Spastic ataxia; Cerebellar ataxia 2021-10-06 criteria provided, single submitter clinical testing

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