ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3982+1G>A

dbSNP: rs398124145
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081051 SCV000112958 pathogenic not provided 2013-04-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000499536 SCV000594222 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2015-08-17 criteria provided, single submitter clinical testing

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