ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.826C>T (p.Arg276Cys)

gnomAD frequency: 0.00002  dbSNP: rs886540540
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333844 SCV001526535 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 2018-11-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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