ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5609CCA[1] (p.Thr1871del)

dbSNP: rs2151309510
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Center for Mendelian Genomics, University of Washington RCV001543358 SCV001761916 likely pathogenic Menke-Hennekam syndrome 1 no assertion criteria provided research

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