Submissions for variant NM_005120.3(MED12):c.5659G>A (p.Gly1887Ser)

gnomAD frequency: 0.00001  dbSNP: rs758621985

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001712371	SCV000520895	benign	not provided	2020-09-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003595965	SCV000630357	benign	FG syndrome	2024-11-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004022347	SCV005023509	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2024-01-06	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.
PreventionGenetics, part of Exact Sciences	RCV004737472	SCV005353380	likely benign	MED12-related disorder	2024-08-05	no assertion criteria provided	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).