ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter)

dbSNP: rs121434625
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000010036 SCV000030257 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 1995-07-27 no assertion criteria provided literature only
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000010036 SCV000999398 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2019-11-05 no assertion criteria provided clinical testing

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