Submissions for variant NM_005120.3(MED12):c.5400+6C>T

gnomAD frequency: 0.00121  dbSNP: rs192656109

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724242	SCV000229875	uncertain significance	not provided	2014-12-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000225701	SCV000250576	benign	not specified	2014-11-11	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	RCV003765097	SCV000630355	benign	FG syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000225701	SCV002066131	likely benign	not specified	2017-09-07	criteria provided, single submitter	clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001251841	SCV001427586	likely benign	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000724242	SCV001800100	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724242	SCV001927536	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724242	SCV001969816	likely benign	not provided		no assertion criteria provided	clinical testing