ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.800del (p.Ser267fs)

dbSNP: rs1553238311
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677645 SCV000803775 likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2017-11-07 criteria provided, single submitter clinical testing

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