ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.4759C>T (p.Gln1587Ter)

dbSNP: rs2150160765
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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 Human Genetics, University of Leipzig Medical Center RCV001724752 SCV001950028 likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2021-07-27 criteria provided, single submitter clinical testing

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