ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg)

gnomAD frequency: 0.00001  dbSNP: rs766320521
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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) RCV000731898 SCV000859766 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868968 SCV002202255 likely benign Rubinstein-Taybi syndrome 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485905 SCV002777127 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2021-07-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004742619 SCV005361426 likely benign CREBBP-related disorder 2023-06-20 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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