ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys)

gnomAD frequency: 0.00003  dbSNP: rs928788426
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002275598 SCV002564235 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies 2021-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003164404 SCV003862289 likely benign Inborn genetic diseases 2023-02-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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