ClinVar Miner

Submissions for variant NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu)

dbSNP: rs150798889
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732089 SCV000859994 uncertain significance not provided 2018-02-26 criteria provided, single submitter clinical testing
New York Genome Center RCV002275126 SCV002564234 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

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