ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4560+14A>G

gnomAD frequency: 0.00021  dbSNP: rs200934101
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145758 SCV000192884 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498665 SCV002802687 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2021-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514807 SCV003498775 benign Rubinstein-Taybi syndrome 2023-12-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714509 SCV005295924 benign not provided criteria provided, single submitter not provided

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