Submissions for variant NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)

gnomAD frequency: 0.00092  dbSNP: rs200663107

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000121331	SCV000113176	likely benign	not specified	2015-11-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000081268	SCV000250579	benign	not provided	2020-03-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28152038, 26813965, 24728327)
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000081268	SCV000280860	likely benign	not provided	2016-01-18	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Ambry Genetics	RCV002311001	SCV000320393	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-05-18	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Invitae	RCV003761744	SCV000559583	likely benign	FG syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000121331	SCV000595757	likely benign	not specified	2015-09-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003985268	SCV004756232	benign	MED12-related disorder	2020-01-23	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).
ITMI	RCV000121331	SCV000085504	not provided	not specified	2013-09-19	no assertion provided	reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000081268	SCV001798413	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000081268	SCV001929329	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000081268	SCV001965393	likely benign	not provided		no assertion criteria provided	clinical testing