ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.511-18459_511-15460del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000735903 SCV000864015 pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2018-12-17 criteria provided, single submitter research

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