ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.6279C>T (p.Asn2093=)

gnomAD frequency: 0.00001  dbSNP: rs762700575
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002542202 SCV001072764 likely benign Rubinstein-Taybi syndrome 2023-08-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942876 SCV004765087 likely benign CREBBP-related disorder 2022-07-05 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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