Submissions for variant NM_005120.3(MED12):c.934G>C (p.Val312Leu)

gnomAD frequency: 0.00020  dbSNP: rs377403264

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117597	SCV000151824	likely benign	not specified	2013-07-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001704026	SCV000250616	likely benign	not provided	2021-06-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics	RCV002311005	SCV000319826	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-10-25	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Invitae	RCV003761749	SCV001003133	benign	FG syndrome	2024-01-30	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001196895	SCV001367529	likely benign	X-linked intellectual disability with marfanoid habitus	2019-02-20	criteria provided, single submitter	clinical testing	This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BP4,BP6. This variant was detected in hemizygous state.
CeGaT Center for Human Genetics Tuebingen	RCV001704026	SCV004165338	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	MED12: BP4, BS2