ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5178C>T (p.Tyr1726=)

gnomAD frequency: 0.00004  dbSNP: rs752909743
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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 RCV003075243 SCV003468801 benign Rubinstein-Taybi syndrome 2022-03-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004744572 SCV005367500 likely benign CREBBP-related disorder 2024-07-23 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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