ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.2304C>T (p.His768=)

gnomAD frequency: 0.00017  dbSNP: rs994508298
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000927408 SCV001072992 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502829 SCV002805226 likely benign Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies 2021-09-21 criteria provided, single submitter clinical testing

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