ClinVar Miner

Submissions for variant NM_001029896.2(WDR45):c.766_794del (p.Asp257fs)

dbSNP: rs1569523457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762635 SCV000892969 likely pathogenic not provided 2018-09-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000762635 SCV001446519 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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