ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.2460C>A (p.Cys820Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001270423 SCV001450710 likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2020-10-19 no assertion criteria provided clinical testing

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