ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5842C>A (p.Pro1948Thr)

dbSNP: rs1231016252
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331221 SCV001523214 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2020-06-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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