ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.3585_3592del (p.Trp1197fs)

dbSNP: rs2096780961
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001254123 SCV001430061 pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2020-07-01 criteria provided, single submitter clinical testing

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