ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.998G>A (p.Gly333Glu)

dbSNP: rs2053548814
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001255819 SCV001432438 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations no assertion criteria provided clinical testing

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