Submissions for variant NM_005120.3(MED12):c.183C>T (p.Asn61=)

gnomAD frequency: 0.00003  dbSNP: rs770411750

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000609665	SCV000728732	likely benign	not specified	2018-01-29	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	RCV003596071	SCV001727366	benign	FG syndrome	2023-11-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002413759	SCV002715073	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-10-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV003437326	SCV004165334	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	MED12: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003985395	SCV004757650	likely benign	MED12-related disorder	2019-03-04	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).