ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.2702C>T (p.Pro901Leu)

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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 RCV002923367 SCV003268389 benign Rubinstein-Taybi syndrome 2022-09-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005019480 SCV005645930 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2024-06-24 criteria provided, single submitter clinical testing

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