ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.2416_2419del (p.Ser806fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV002468818 SCV002764960 pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2020-08-25 criteria provided, single submitter clinical testing
GeneDx RCV003318727 SCV004023083 pathogenic not provided 2023-07-29 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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