Submissions for variant NM_004380.3(CREBBP):c.283G>A (p.Val95Met)

dbSNP: rs756802946

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV000989513	SCV001139926	uncertain significance	Rubinstein-Taybi syndrome due to CREBBP mutations	2019-05-28	criteria provided, single submitter	clinical testing
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	RCV000989513	SCV001423841	uncertain significance	Rubinstein-Taybi syndrome due to CREBBP mutations		criteria provided, single submitter	research	CREBBP c.283G>A, [p.V95M] has not been reported previously in the medical literature, and is a variant of uncertain significance.
GeneDx	RCV001655658	SCV001871280	likely benign	not provided	2021-07-15	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 8616895, 27535533, 29259186)
Labcorp Genetics (formerly Invitae), Labcorp	RCV002550613	SCV003452853	likely benign	Rubinstein-Taybi syndrome	2023-04-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001655658	SCV004033453	uncertain significance	not provided	2024-01-01	criteria provided, single submitter	clinical testing	CREBBP: PP2