ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro)

gnomAD frequency: 0.00015  dbSNP: rs577305576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000347899 SCV000337853 benign not specified 2015-12-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502125 SCV002812346 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2021-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518956 SCV003250895 benign Rubinstein-Taybi syndrome 2024-01-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003909970 SCV004726320 likely benign CREBBP-related disorder 2021-07-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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