ClinVar Miner

Submissions for variant NM_001273.5(CHD4):c.3745T>G (p.Tyr1249Asp)

dbSNP: rs1060499583
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477959 SCV000536785 likely pathogenic Sifrim-Hitz-Weiss syndrome 2016-04-27 no assertion criteria provided research

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