ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4764G>A (p.Lys1588=)

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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 RCV002623279 SCV003503871 likely benign Rubinstein-Taybi syndrome 2022-03-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004721116 SCV005329717 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing CREBBP: BP4

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