ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)

dbSNP: rs28937315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000010039 SCV000999436 likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2019-11-05 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000010039 SCV004013320 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2023-06-21 criteria provided, single submitter clinical testing PS2, PS4, PM2, PP2, PP3
OMIM RCV000010039 SCV000030260 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2002-07-01 no assertion criteria provided literature only

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