ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)

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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 RCV002871300 SCV003230347 benign Rubinstein-Taybi syndrome 2022-08-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005019417 SCV005645813 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2024-01-14 criteria provided, single submitter clinical testing

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