ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu)

dbSNP: rs199995527
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333840 SCV001526531 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 2018-02-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV003135991 SCV003823752 uncertain significance not provided 2019-07-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548179 SCV004739183 likely benign WDR81-related disorder 2023-06-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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