ClinVar Miner

Submissions for variant NM_015378.4(VPS13D):c.12743C>A (p.Ala4248Glu)

dbSNP: rs779850187
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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 RCV000995909 SCV001150303 likely pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 2019-07-12 criteria provided, single submitter clinical testing

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