ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3366dup (p.Pro1123fs)

dbSNP: rs1596856176
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000856868 SCV000999433 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2019-11-05 no assertion criteria provided clinical testing

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