ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.7272G>T (p.Leu2424=)

gnomAD frequency: 0.00005  dbSNP: rs375448134
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571568 SCV001796071 likely benign not provided 2020-09-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002569054 SCV003509264 likely benign Rubinstein-Taybi syndrome 2024-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003941019 SCV004752367 likely benign CREBBP-related disorder 2019-08-09 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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