ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.5506-19C>G

gnomAD frequency: 0.23717  dbSNP: rs62090051
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001544098 SCV001763073 benign Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544099 SCV001763074 benign Hydrocephalus, congenital, 3, with brain anomalies 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001694077 SCV001907134 benign not provided 2020-05-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001694077 SCV005252006 benign not provided criteria provided, single submitter not provided

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