ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.3060+9C>T

gnomAD frequency: 0.00004  dbSNP: rs372291994
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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 RCV002547181 SCV001092070 likely benign Rubinstein-Taybi syndrome 2023-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502898 SCV002798794 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2022-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925858 SCV004745777 likely benign CREBBP-related disorder 2021-11-11 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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