ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.1095T>C (p.His365=)

dbSNP: rs565069106
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002064861 SCV002385178 benign Rubinstein-Taybi syndrome 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507538 SCV002809583 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2022-03-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413702 SCV004140993 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing CREBBP: BP4, BP7

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