Submissions for variant NM_005120.3(MED12):c.3699G>A (p.Ala1233=)

gnomAD frequency: 0.00133  dbSNP: rs184162709

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001712225	SCV000521588	benign	not provided	2019-05-01	criteria provided, single submitter	clinical testing
Invitae	RCV003761986	SCV000559592	benign	FG syndrome	2024-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356549	SCV002623991	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-07-11	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	RCV001712225	SCV004165346	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	MED12: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003985333	SCV004764440	benign	MED12-related disorder	2020-08-28	criteria provided, single submitter	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).