Submissions for variant NM_002397.5(MEF2C):c.642C>T (p.Asn214=)

gnomAD frequency: 0.00011  dbSNP: rs79455305

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126733	SCV000170245	benign	not specified	2014-05-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago	RCV000126733	SCV000193648	benign	not specified	2015-08-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000576205	SCV000676973	benign	Intellectual disability, autosomal dominant 20	2024-12-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362766	SCV002658945	likely benign	Inborn genetic diseases	2018-12-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV005243126	SCV005892955	likely benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	MEF2C: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences	RCV004532520	SCV004754347	benign	MEF2C-related disorder	2019-10-28	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).