ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.1574-12C>T

gnomAD frequency: 0.00116  dbSNP: rs185243405
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001649604 SCV001865048 benign not provided 2019-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073005 SCV002433797 benign Rubinstein-Taybi syndrome 2025-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477867 SCV002797812 benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2021-08-04 criteria provided, single submitter clinical testing

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