ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.241G>A (p.Ala81Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV002291180 SCV002583459 uncertain significance Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2022-05-02 no assertion criteria provided clinical testing

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