ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3982+10G>A

gnomAD frequency: 0.00007  dbSNP: rs370093745
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591066 SCV000706285 uncertain significance not provided 2017-02-20 criteria provided, single submitter clinical testing
Invitae RCV002532525 SCV003501539 likely benign Rubinstein-Taybi syndrome 2023-10-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927927 SCV004737507 likely benign CREBBP-related disorder 2021-12-08 criteria provided, single submitter 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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