ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5837del (p.Pro1946fs)

dbSNP: rs587783507
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145772 SCV000192900 pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations 2013-02-08 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000681911 SCV002051535 likely pathogenic not provided 2020-12-28 criteria provided, single submitter clinical testing PVS1, PS4_Moderate
Gharavi Laboratory, Columbia University RCV000681911 SCV000809394 likely pathogenic not provided 2018-09-16 no assertion criteria provided research

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