Submissions for variant NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup)

dbSNP: rs757160341

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153024	SCV000202469	benign	not specified	2014-04-18	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000153024	SCV000248023	likely benign	not specified	2014-06-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004019831	SCV000320062	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-05-31	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.
GeneDx	RCV001172017	SCV000565122	likely benign	not provided	2022-10-24	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Invitae	RCV003761792	SCV000754964	benign	FG syndrome	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001172017	SCV001334946	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	MED12: BS2
PreventionGenetics, part of Exact Sciences	RCV003985282	SCV004761115	likely benign	MED12-related disorder	2022-01-18	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).