ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3982+9C>T

gnomAD frequency: 0.00031  dbSNP: rs114668693
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516440 SCV001724720 benign Rubinstein-Taybi syndrome 2023-11-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502939 SCV002807701 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2021-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903230 SCV004726569 likely benign CREBBP-related disorder 2021-05-27 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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