ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.504G>A (p.Thr168=)

gnomAD frequency: 0.00001  dbSNP: rs373310969
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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) RCV000081056 SCV000112963 uncertain significance not provided 2013-04-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514428 SCV003497872 benign Rubinstein-Taybi syndrome 2024-08-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782050 SCV005395335 likely benign not specified 2024-09-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003894939 SCV004711419 likely benign CREBBP-related disorder 2021-12-30 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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