Submissions for variant NM_005120.3(MED12):c.5103T>C (p.Ser1701=)

gnomAD frequency: 0.00009  dbSNP: rs762801267

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000610532	SCV000722433	likely benign	not specified	2017-08-30	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	RCV002315920	SCV000739144	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-05-24	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003762817	SCV002368558	benign	FG syndrome	2023-12-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003437313	SCV004165354	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	MED12: BP4, BP7, BS2