Submissions for variant NM_005120.3(MED12):c.1167G>A (p.Lys389=)

gnomAD frequency: 0.00007  dbSNP: rs374324656

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000432789	SCV000513580	benign	not specified	2015-11-18	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	RCV003761975	SCV000630343	benign	FG syndrome	2024-01-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004022294	SCV000739134	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-08-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001729579	SCV001978051	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001729579	SCV001980430	likely benign	not provided		no assertion criteria provided	clinical testing