Submissions for variant NM_005120.3(MED12):c.2886C>T (p.Ser962=)

gnomAD frequency: 0.00604  dbSNP: rs34761462

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153479	SCV000202989	benign	not specified	2014-02-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000153479	SCV000250590	benign	not specified	2014-09-22	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	RCV003764940	SCV000288797	benign	FG syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004019837	SCV000738387	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-08-25	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.