ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter)

dbSNP: rs587783505
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145769 SCV000192897 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2013-10-10 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796043 SCV005417027 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 criteria provided, single submitter clinical testing PM2_Supporting+PVS1_Strong+PS4_Supporting+PM6+PP4

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