ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys)

dbSNP: rs1559720382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dobyns Lab, Seattle Children's Research Institute RCV000779642 SCV000916319 pathogenic Ventriculomegaly; Luscan-Lumish syndrome; Genetic syndrome with a Dandy-Walker malformation as major feature 2019-02-18 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001258008 SCV001434822 likely pathogenic Dandy-Walker syndrome no assertion criteria provided research

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