Submissions for variant NM_005120.3(MED12):c.384A>G (p.Gln128=)

gnomAD frequency: 0.00225  dbSNP: rs201566660

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000425539	SCV000513579	benign	not specified	2016-06-26	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.
Ambry Genetics	RCV002314151	SCV000848829	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-01-23	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.
Eurofins Ntd Llc (ga)	RCV000425539	SCV000857623	benign	not specified	2017-10-27	criteria provided, single submitter	clinical testing
Invitae	RCV003766200	SCV001002464	benign	FG syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002488883	SCV002796441	likely benign	X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type	2022-01-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003985330	SCV004730510	benign	MED12-related disorder	2019-12-23	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001729578	SCV001978261	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001729578	SCV001980039	likely benign	not provided		no assertion criteria provided	clinical testing