ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3262-2A>G

dbSNP: rs1555910114
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sbielas Lab-Department of Human Genetics University of Michigan, University of Michigan Medical School RCV000578180 SCV000680059 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2017-10-27 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001034552 SCV001197917 likely pathogenic CHARGE association no assertion criteria provided research

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