ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.2051A>G (p.Gln684Arg)

dbSNP: rs748793270
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333838 SCV001526529 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 2018-08-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV002272452 SCV002558226 uncertain significance not provided 2022-01-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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