ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.2452G>T (p.Glu818Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003123265 SCV003799034 likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2022-12-13 criteria provided, single submitter clinical testing PVS1, PM2

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