ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.1216+20C>A

gnomAD frequency: 0.00066  dbSNP: rs200567815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250987 SCV000310295 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058162 SCV002477841 benign Rubinstein-Taybi syndrome 2025-01-30 criteria provided, single submitter clinical testing

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