ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4509C>G (p.Tyr1503Ter)

dbSNP: rs1555473105
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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) RCV000598406 SCV000702262 pathogenic not provided 2016-10-05 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV005231144 SCV005880057 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PS2_Supporting

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