Submissions for variant NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu)

gnomAD frequency: 0.00040  dbSNP: rs200716582

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000591355	SCV000704621	uncertain significance	not provided	2016-12-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001486605	SCV001691065	likely benign	Rubinstein-Taybi syndrome	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000591355	SCV001869395	benign	not provided	2020-02-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20689175, 12070251, 17942008)
Ambry Genetics	RCV002368012	SCV002666374	benign	Inborn genetic diseases	2019-09-10	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000591355	SCV004144954	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	CREBBP: PP2, BS1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000591355	SCV001743919	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000591355	SCV001973336	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915709	SCV004729379	likely benign	CREBBP-related disorder	2022-04-20	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).