ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) (rs28937315)

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Total submissions: 2
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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 1 2019-11-05 criteria provided, single submitter clinical testing
OMIM RCV000010039 SCV000030260 pathogenic Rubinstein-Taybi syndrome 1 2002-07-01 no assertion criteria provided literature only

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