ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.2213C>A (p.Ala738Asp)

dbSNP: rs1131692184
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV000495948 SCV000583601 likely pathogenic Weaver syndrome 2017-07-18 no assertion criteria provided clinical testing de novo mutation

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