ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.175C>T (p.Leu59Phe)

gnomAD frequency: 0.00001  dbSNP: rs747862621
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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 RCV003086185 SCV003474150 likely benign Rubinstein-Taybi syndrome 2024-07-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005019659 SCV005639107 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2024-05-17 criteria provided, single submitter clinical testing

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