ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.1604G>A (p.Arg535His)

gnomAD frequency: 0.00001  dbSNP: rs563732828
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000908658 SCV001053435 likely benign not provided 2018-05-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495489 SCV002800350 likely benign Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies 2021-07-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000908658 SCV005217911 likely benign not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV000908658 SCV005330914 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing WDR81: BP4
PreventionGenetics, part of Exact Sciences RCV004551767 SCV004780577 likely benign WDR81-related disorder 2024-08-24 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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