ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.4767del (p.Lys1589fs)

dbSNP: rs754008719
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274450 SCV002559165 pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities criteria provided, single submitter clinical testing

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