Submissions for variant NM_005120.3(MED12):c.6208_6210CAG[8] (p.Gln2076dup) (rs757160341)

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000153024	SCV000202469	benign	not specified	2014-04-18	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000153024	SCV000248023	likely benign	not specified	2014-06-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000253558	SCV000320062	benign	Cardiovascular phenotype	2017-05-31	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence
GeneDx	RCV000153024	SCV000565122	likely benign	not specified	2018-03-06	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	RCV000633697	SCV000754964	benign	FG syndrome 1	2019-12-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000721006	SCV000851890	benign	History of neurodevelopmental disorder	2017-05-31	criteria provided, single submitter	clinical testing	Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence
CeGaT Praxis fuer Humangenetik Tuebingen	RCV001172017	SCV001334946	likely benign	not provided	2020-03-01	criteria provided, single submitter	clinical testing