Submissions for variant NM_005120.3(MED12):c.3930A>C (p.Pro1310=)

gnomAD frequency: 0.21992  dbSNP: rs5030619

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081261	SCV000113169	benign	not specified	2014-01-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081261	SCV000310835	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004019564	SCV000738267	benign	Familial thoracic aortic aneurysm and aortic dissection	2014-12-30	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003761742	SCV001000400	benign	FG syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001775574	SCV002014156	benign	X-linked intellectual disability with marfanoid habitus	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001775575	SCV002014157	benign	Blepharophimosis - intellectual disability syndrome, MKB type	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000860367	SCV002014158	benign	FG syndrome 1	2021-09-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004713236	SCV005274609	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000081261	SCV000151828	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000081261	SCV001741533	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081261	SCV001957954	benign	not specified		no assertion criteria provided	clinical testing