Submissions for variant NM_005120.3(MED12):c.438A>G (p.Leu146=)

gnomAD frequency: 0.00100  dbSNP: rs35068602

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153478	SCV000202988	benign	not specified	2014-02-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000153478	SCV000250582	benign	not specified	2015-02-06	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.
Invitae	RCV003761794	SCV000630351	benign	FG syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312996	SCV000739130	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-03-03	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.