ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.5179+6C>T

gnomAD frequency: 0.00001  dbSNP: rs748777672
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002227639 SCV002506694 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies 2021-05-14 criteria provided, single submitter clinical testing

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