ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu)

dbSNP: rs374149596
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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, University of Leipzig Medical Center RCV001262568 SCV001440490 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 2019-01-01 criteria provided, single submitter clinical testing

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