ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter)

dbSNP: rs2096866595
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia RCV001261158 SCV001424334 uncertain significance Cerebellar dysfunction with variable cognitive and behavioral abnormalities criteria provided, single submitter clinical testing
OMIM RCV001261158 SCV002098945 pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2022-02-24 no assertion criteria provided literature only

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